Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523403_131523405delinsACC , CM000671.2:g.131523403_131523405delinsACC	GRCh38
NC_000009.11:g.134398790_134398792delinsACC , CM000671.1:g.134398790_134398792delinsACC	GRCh37
NC_000009.10:g.133388611_133388613delinsACC	NCBI36
NG_008896.1:g.25502_25504delinsACC
NG_008896.2:g.25502_25504delinsACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.297_299delinsACC	ENSP00000343034.7:n.297_299delinsACC
ENST00000404875.7:n.3015_3017delinsACC
ENST00000677295.2:c.2819_2821delinsACC	ENSP00000504346.2:n.2819_2821delinsACC
ENST00000678264.2:c.2658_2660delinsACC	ENSP00000503157.2:n.2658_2660delinsACC
ENST00000682070.1:n.2785_2787delinsACC
ENST00000682639.1:c.240-60_240-58delinsACC
ENST00000682813.1:n.2872_2874delinsACC
ENST00000683231.1:c.325_327delinsACC
ENST00000683392.1:n.5067_5069delinsACC
ENST00000683900.1:n.4375_4377delinsACC
ENST00000684062.1:n.3141_3143delinsACC
ENST00000684399.1:c.290_292delinsACC
ENST00000684579.1:n.4321_4323delinsACC
ENST00000341012.12:c.297_299delinsACC	ENSP00000343034.7:n.297_299delinsACC
ENST00000372220.5:c.297_299delinsACC	ENSP00000361294.5:n.297_299delinsACC
ENST00000372228.9:c.297_299delinsACC	ENSP00000361302.3:n.297_299delinsACC
ENST00000402686.8:c.297_299delinsACC MANE Select	ENSP00000385797.4:n.297_299delinsACC
ENST00000676640.1:c.297_299delinsACC	ENSP00000503281.1:n.297_299delinsACC
ENST00000676803.1:c.297_299delinsACC	ENSP00000503093.1:n.297_299delinsACC
ENST00000676835.1:c.1690_1692delinsACC	ENSP00000502911.1:n.1690_1692delinsACC
ENST00000677099.1:c.2185_2187delinsACC	ENSP00000504553.1:n.2185_2187delinsACC
ENST00000677216.1:c.297_299delinsACC	ENSP00000503772.1:n.297_299delinsACC
ENST00000677295.1:c.1697_1699delinsACC	ENSP00000504346.1:n.1697_1699delinsACC
ENST00000677444.1:c.2420_2422delinsACC
ENST00000677626.1:c.297_299delinsACC	ENSP00000503552.1:n.297_299delinsACC
ENST00000677853.1:c.1483_1485delinsACC	ENSP00000503488.1:n.1483_1485delinsACC
ENST00000678303.1:c.297_299delinsACC	ENSP00000503696.1:n.297_299delinsACC
ENST00000678366.1:c.2724_2726delinsACC	ENSP00000504353.1:n.2724_2726delinsACC
ENST00000678546.1:c.2420_2422delinsACC	ENSP00000503062.1:n.2420_2422delinsACC
ENST00000678548.1:c.2614_2616delinsACC	ENSP00000503934.1:n.2614_2616delinsACC
ENST00000678626.1:n.2311_2313delinsACC
ENST00000678739.1:c.2641_2643delinsACC	ENSP00000503806.1:n.2641_2643delinsACC
ENST00000678833.1:c.2227_2229delinsACC	ENSP00000503893.1:n.2227_2229delinsACC
ENST00000679023.1:c.121_123delinsACC	ENSP00000503718.1:n.121_123delinsACC
ENST00000679076.1:c.2094_2096delinsACC
ENST00000679111.1:c.1231_1233delinsACC	ENSP00000504257.1:n.1231_1233delinsACC
ENST00000341012.11:c.297_299delinsACC	ENSP00000343034.7:n.297_299delinsACC
ENST00000372220.4:c.1338_1340delinsACC	ENSP00000361294.4:n.1338_1340delinsACC
ENST00000372228.7:c.297_299delinsACC	ENSP00000361302.3:n.297_299delinsACC
ENST00000402686.7:c.297_299delinsACC	ENSP00000385797.3:n.297_299delinsACC
ENST00000404875.6:c.297_299delinsACC	ENSP00000384531.2:n.297_299delinsACC
ENST00000423007.5:c.297_299delinsACC	ENSP00000404119.1:n.297_299delinsACC
ENST00000485278.5:n.3025_3027delinsACC
NM_001077365.1:c.297_299delinsACC	NP_001070833.1:n.297_299delinsACC
NM_001077366.1:c.297_299delinsACC	NP_001070834.1:n.297_299delinsACC
NM_001136113.1:c.297_299delinsACC	NP_001129585.1:n.297_299delinsACC
NM_001136114.1:c.297_299delinsACC	NP_001129586.1:n.297_299delinsACC
NM_007171.3:c.297_299delinsACC	NP_009102.3:n.297_299delinsACC
XM_005272156.1:c.297_299delinsACC	XP_005272213.1:n.297_299delinsACC
XM_005272158.1:c.297_299delinsACC	XP_005272215.1:n.297_299delinsACC
XM_005272159.1:c.297_299delinsACC	XP_005272216.1:n.297_299delinsACC
XM_005272162.1:c.297_299delinsACC	XP_005272219.1:n.297_299delinsACC
XM_006716932.1:c.297_299delinsACC	XP_006716995.1:n.297_299delinsACC
XM_011518140.1:c.297_299delinsACC	XP_011516442.1:n.297_299delinsACC
XM_011518141.1:c.297_299delinsACC	XP_011516443.1:n.297_299delinsACC
XM_011518142.1:c.297_299delinsACC	XP_011516444.1:n.297_299delinsACC
XM_011518143.1:c.297_299delinsACC	XP_011516445.1:n.297_299delinsACC
XM_011518145.1:c.297_299delinsACC	XP_011516447.1:n.297_299delinsACC
XM_011518147.1:c.297_299delinsACC	XP_011516449.1:n.297_299delinsACC
XR_929703.1:n.2541_2543delinsACC
NM_001353193.1:c.297_299delinsACC	NP_001340122.1:n.297_299delinsACC
NM_001353194.1:c.297_299delinsACC	NP_001340123.1:n.297_299delinsACC
NM_001353195.1:c.297_299delinsACC	NP_001340124.1:n.297_299delinsACC
NM_001353196.1:c.297_299delinsACC	NP_001340125.1:n.297_299delinsACC
NM_001353197.1:c.297_299delinsACC	NP_001340126.1:n.297_299delinsACC
NM_001353198.1:c.297_299delinsACC	NP_001340127.1:n.297_299delinsACC
NM_001353199.1:c.297_299delinsACC	NP_001340128.1:n.297_299delinsACC
NM_001353200.1:c.297_299delinsACC	NP_001340129.1:n.297_299delinsACC
NR_148391.1:n.2349_2351delinsACC
NR_148392.1:n.2567_2569delinsACC
NR_148393.1:n.2664_2666delinsACC
NR_148394.1:n.2418_2420delinsACC
NR_148395.1:n.2816_2818delinsACC
NR_148396.1:n.2450_2452delinsACC
NR_148397.1:n.2575_2577delinsACC
NR_148398.1:n.2530_2532delinsACC
NR_148399.1:n.2880_2882delinsACC
NR_148400.1:n.2655_2657delinsACC
XM_005272162.3:c.297_299delinsACC	XP_005272219.1:n.297_299delinsACC
XM_006716932.2:c.297_299delinsACC	XP_006716995.1:n.297_299delinsACC
XM_011518140.2:c.297_299delinsACC	XP_011516442.1:n.297_299delinsACC
XM_011518141.2:c.297_299delinsACC	XP_011516443.1:n.297_299delinsACC
XM_011518142.2:c.297_299delinsACC	XP_011516444.1:n.297_299delinsACC
XM_011518143.2:c.297_299delinsACC	XP_011516445.1:n.297_299delinsACC
XM_011518145.2:c.297_299delinsACC	XP_011516447.1:n.297_299delinsACC
XM_017014205.2:c.297_299delinsACC	XP_016869694.1:n.297_299delinsACC
XM_024447380.1:c.297_299delinsACC	XP_024303148.1:n.297_299delinsACC
XM_024447381.1:c.297_299delinsACC	XP_024303149.1:n.297_299delinsACC
XM_024447382.1:c.297_299delinsACC	XP_024303150.1:n.297_299delinsACC
XR_001746160.2:n.2469_2471delinsACC
XR_001746162.2:n.2850_2852delinsACC
XR_001746164.1:n.2567_2569delinsACC
XR_001746166.2:n.2686_2688delinsACC
NM_001077365.2:c.297_299delinsACC MANE Select	NP_001070833.1:n.297_299delinsACC
NM_001077366.2:c.297_299delinsACC	NP_001070834.1:n.297_299delinsACC
NM_001136113.2:c.297_299delinsACC	NP_001129585.1:n.297_299delinsACC
NM_001136114.2:c.297_299delinsACC	NP_001129586.1:n.297_299delinsACC
NM_001353193.2:c.297_299delinsACC	NP_001340122.2:n.297_299delinsACC
NM_001353194.2:c.297_299delinsACC	NP_001340123.1:n.297_299delinsACC
NM_001353195.2:c.297_299delinsACC	NP_001340124.1:n.297_299delinsACC
NM_001353196.2:c.297_299delinsACC	NP_001340125.1:n.297_299delinsACC
NM_001353197.2:c.297_299delinsACC	NP_001340126.2:n.297_299delinsACC
NM_001353198.2:c.297_299delinsACC	NP_001340127.2:n.297_299delinsACC
NM_001353199.2:c.297_299delinsACC	NP_001340128.2:n.297_299delinsACC
NM_001353200.2:c.297_299delinsACC	NP_001340129.1:n.297_299delinsACC
NM_001374689.1:c.297_299delinsACC	NP_001361618.1:n.297_299delinsACC
NM_001374690.1:c.297_299delinsACC	NP_001361619.1:n.297_299delinsACC
NM_001374691.1:c.297_299delinsACC	NP_001361620.1:n.297_299delinsACC
NM_001374692.1:c.297_299delinsACC	NP_001361621.1:n.297_299delinsACC
NM_001374693.1:c.297_299delinsACC	NP_001361622.1:n.297_299delinsACC
NM_001374695.1:c.297_299delinsACC	NP_001361624.1:n.297_299delinsACC
NM_007171.4:c.297_299delinsACC	NP_009102.4:n.297_299delinsACC
NR_148391.2:n.2333_2335delinsACC
NR_148392.2:n.2551_2553delinsACC
NR_148393.2:n.2648_2650delinsACC
NR_148394.2:n.2402_2404delinsACC
NR_148395.2:n.2800_2802delinsACC
NR_148396.2:n.2434_2436delinsACC
NR_148397.2:n.2559_2561delinsACC
NR_148398.2:n.2514_2516delinsACC
NR_148399.2:n.2864_2866delinsACC
NR_148400.2:n.2639_2641delinsACC

HGVS	Amino-acid Change
ENST00000341012.13:c.297_299delinsACC	ENSP00000343034.7:n.297_299delinsACC
ENST00000404875.7:n.3015_3017delinsACC
ENST00000677295.2:c.2819_2821delinsACC	ENSP00000504346.2:n.2819_2821delinsACC
ENST00000678264.2:c.2658_2660delinsACC	ENSP00000503157.2:n.2658_2660delinsACC
ENST00000682070.1:n.2785_2787delinsACC
ENST00000682639.1:c.240-60_240-58delinsACC
ENST00000682813.1:n.2872_2874delinsACC
ENST00000683231.1:c.325_327delinsACC
ENST00000683392.1:n.5067_5069delinsACC
ENST00000683900.1:n.4375_4377delinsACC
ENST00000684062.1:n.3141_3143delinsACC
ENST00000684399.1:c.290_292delinsACC
ENST00000684579.1:n.4321_4323delinsACC
ENST00000341012.12:c.297_299delinsACC	ENSP00000343034.7:n.297_299delinsACC
ENST00000372220.5:c.297_299delinsACC	ENSP00000361294.5:n.297_299delinsACC
ENST00000372228.9:c.297_299delinsACC	ENSP00000361302.3:n.297_299delinsACC
ENST00000402686.8:c.297_299delinsACC MANE Select	ENSP00000385797.4:n.297_299delinsACC
ENST00000676640.1:c.297_299delinsACC	ENSP00000503281.1:n.297_299delinsACC
ENST00000676803.1:c.297_299delinsACC	ENSP00000503093.1:n.297_299delinsACC
ENST00000676835.1:c.1690_1692delinsACC	ENSP00000502911.1:n.1690_1692delinsACC
ENST00000677099.1:c.2185_2187delinsACC	ENSP00000504553.1:n.2185_2187delinsACC
ENST00000677216.1:c.297_299delinsACC	ENSP00000503772.1:n.297_299delinsACC
ENST00000677295.1:c.1697_1699delinsACC	ENSP00000504346.1:n.1697_1699delinsACC
ENST00000677444.1:c.2420_2422delinsACC
ENST00000677626.1:c.297_299delinsACC	ENSP00000503552.1:n.297_299delinsACC
ENST00000677853.1:c.1483_1485delinsACC	ENSP00000503488.1:n.1483_1485delinsACC
ENST00000678303.1:c.297_299delinsACC	ENSP00000503696.1:n.297_299delinsACC
ENST00000678366.1:c.2724_2726delinsACC	ENSP00000504353.1:n.2724_2726delinsACC
ENST00000678546.1:c.2420_2422delinsACC	ENSP00000503062.1:n.2420_2422delinsACC
ENST00000678548.1:c.2614_2616delinsACC	ENSP00000503934.1:n.2614_2616delinsACC
ENST00000678626.1:n.2311_2313delinsACC
ENST00000678739.1:c.2641_2643delinsACC	ENSP00000503806.1:n.2641_2643delinsACC
ENST00000678833.1:c.2227_2229delinsACC	ENSP00000503893.1:n.2227_2229delinsACC
ENST00000679023.1:c.121_123delinsACC	ENSP00000503718.1:n.121_123delinsACC
ENST00000679076.1:c.2094_2096delinsACC
ENST00000679111.1:c.1231_1233delinsACC	ENSP00000504257.1:n.1231_1233delinsACC
ENST00000341012.11:c.297_299delinsACC	ENSP00000343034.7:n.297_299delinsACC
ENST00000372220.4:c.1338_1340delinsACC	ENSP00000361294.4:n.1338_1340delinsACC
ENST00000372228.7:c.297_299delinsACC	ENSP00000361302.3:n.297_299delinsACC
ENST00000402686.7:c.297_299delinsACC	ENSP00000385797.3:n.297_299delinsACC
ENST00000404875.6:c.297_299delinsACC	ENSP00000384531.2:n.297_299delinsACC
ENST00000423007.5:c.297_299delinsACC	ENSP00000404119.1:n.297_299delinsACC
ENST00000485278.5:n.3025_3027delinsACC
NM_001077365.1:c.297_299delinsACC	NP_001070833.1:n.297_299delinsACC
NM_001077366.1:c.297_299delinsACC	NP_001070834.1:n.297_299delinsACC
NM_001136113.1:c.297_299delinsACC	NP_001129585.1:n.297_299delinsACC
NM_001136114.1:c.297_299delinsACC	NP_001129586.1:n.297_299delinsACC
NM_007171.3:c.297_299delinsACC	NP_009102.3:n.297_299delinsACC
XM_005272156.1:c.297_299delinsACC	XP_005272213.1:n.297_299delinsACC
XM_005272158.1:c.297_299delinsACC	XP_005272215.1:n.297_299delinsACC
XM_005272159.1:c.297_299delinsACC	XP_005272216.1:n.297_299delinsACC
XM_005272162.1:c.297_299delinsACC	XP_005272219.1:n.297_299delinsACC
XM_006716932.1:c.297_299delinsACC	XP_006716995.1:n.297_299delinsACC
XM_011518140.1:c.297_299delinsACC	XP_011516442.1:n.297_299delinsACC
XM_011518141.1:c.297_299delinsACC	XP_011516443.1:n.297_299delinsACC
XM_011518142.1:c.297_299delinsACC	XP_011516444.1:n.297_299delinsACC
XM_011518143.1:c.297_299delinsACC	XP_011516445.1:n.297_299delinsACC
XM_011518145.1:c.297_299delinsACC	XP_011516447.1:n.297_299delinsACC
XM_011518147.1:c.297_299delinsACC	XP_011516449.1:n.297_299delinsACC
XR_929703.1:n.2541_2543delinsACC
NM_001353193.1:c.297_299delinsACC	NP_001340122.1:n.297_299delinsACC
NM_001353194.1:c.297_299delinsACC	NP_001340123.1:n.297_299delinsACC
NM_001353195.1:c.297_299delinsACC	NP_001340124.1:n.297_299delinsACC
NM_001353196.1:c.297_299delinsACC	NP_001340125.1:n.297_299delinsACC
NM_001353197.1:c.297_299delinsACC	NP_001340126.1:n.297_299delinsACC
NM_001353198.1:c.297_299delinsACC	NP_001340127.1:n.297_299delinsACC
NM_001353199.1:c.297_299delinsACC	NP_001340128.1:n.297_299delinsACC
NM_001353200.1:c.297_299delinsACC	NP_001340129.1:n.297_299delinsACC
NR_148391.1:n.2349_2351delinsACC
NR_148392.1:n.2567_2569delinsACC
NR_148393.1:n.2664_2666delinsACC
NR_148394.1:n.2418_2420delinsACC
NR_148395.1:n.2816_2818delinsACC
NR_148396.1:n.2450_2452delinsACC
NR_148397.1:n.2575_2577delinsACC
NR_148398.1:n.2530_2532delinsACC
NR_148399.1:n.2880_2882delinsACC
NR_148400.1:n.2655_2657delinsACC
XM_005272162.3:c.297_299delinsACC	XP_005272219.1:n.297_299delinsACC
XM_006716932.2:c.297_299delinsACC	XP_006716995.1:n.297_299delinsACC
XM_011518140.2:c.297_299delinsACC	XP_011516442.1:n.297_299delinsACC
XM_011518141.2:c.297_299delinsACC	XP_011516443.1:n.297_299delinsACC
XM_011518142.2:c.297_299delinsACC	XP_011516444.1:n.297_299delinsACC
XM_011518143.2:c.297_299delinsACC	XP_011516445.1:n.297_299delinsACC
XM_011518145.2:c.297_299delinsACC	XP_011516447.1:n.297_299delinsACC
XM_017014205.2:c.297_299delinsACC	XP_016869694.1:n.297_299delinsACC
XM_024447380.1:c.297_299delinsACC	XP_024303148.1:n.297_299delinsACC
XM_024447381.1:c.297_299delinsACC	XP_024303149.1:n.297_299delinsACC
XM_024447382.1:c.297_299delinsACC	XP_024303150.1:n.297_299delinsACC
XR_001746160.2:n.2469_2471delinsACC
XR_001746162.2:n.2850_2852delinsACC
XR_001746164.1:n.2567_2569delinsACC
XR_001746166.2:n.2686_2688delinsACC
NM_001077365.2:c.297_299delinsACC MANE Select	NP_001070833.1:n.297_299delinsACC
NM_001077366.2:c.297_299delinsACC	NP_001070834.1:n.297_299delinsACC
NM_001136113.2:c.297_299delinsACC	NP_001129585.1:n.297_299delinsACC
NM_001136114.2:c.297_299delinsACC	NP_001129586.1:n.297_299delinsACC
NM_001353193.2:c.297_299delinsACC	NP_001340122.2:n.297_299delinsACC
NM_001353194.2:c.297_299delinsACC	NP_001340123.1:n.297_299delinsACC
NM_001353195.2:c.297_299delinsACC	NP_001340124.1:n.297_299delinsACC
NM_001353196.2:c.297_299delinsACC	NP_001340125.1:n.297_299delinsACC
NM_001353197.2:c.297_299delinsACC	NP_001340126.2:n.297_299delinsACC
NM_001353198.2:c.297_299delinsACC	NP_001340127.2:n.297_299delinsACC
NM_001353199.2:c.297_299delinsACC	NP_001340128.2:n.297_299delinsACC
NM_001353200.2:c.297_299delinsACC	NP_001340129.1:n.297_299delinsACC
NM_001374689.1:c.297_299delinsACC	NP_001361618.1:n.297_299delinsACC
NM_001374690.1:c.297_299delinsACC	NP_001361619.1:n.297_299delinsACC
NM_001374691.1:c.297_299delinsACC	NP_001361620.1:n.297_299delinsACC
NM_001374692.1:c.297_299delinsACC	NP_001361621.1:n.297_299delinsACC
NM_001374693.1:c.297_299delinsACC	NP_001361622.1:n.297_299delinsACC
NM_001374695.1:c.297_299delinsACC	NP_001361624.1:n.297_299delinsACC
NM_007171.4:c.297_299delinsACC	NP_009102.4:n.297_299delinsACC
NR_148391.2:n.2333_2335delinsACC
NR_148392.2:n.2551_2553delinsACC
NR_148393.2:n.2648_2650delinsACC
NR_148394.2:n.2402_2404delinsACC
NR_148395.2:n.2800_2802delinsACC
NR_148396.2:n.2434_2436delinsACC
NR_148397.2:n.2559_2561delinsACC
NR_148398.2:n.2514_2516delinsACC
NR_148399.2:n.2864_2866delinsACC
NR_148400.2:n.2639_2641delinsACC