Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523266_131523269del , CM000671.2:g.131523266_131523269del	GRCh38
NC_000009.11:g.134398653_134398656del , CM000671.1:g.134398653_134398656del	GRCh37
NC_000009.10:g.133388474_133388477del	NCBI36
NG_008896.1:g.25365_25368del
NG_008896.2:g.25365_25368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.160_163del	ENSP00000343034.7:n.160_163del
ENST00000404875.7:n.2878_2881del
ENST00000677295.2:c.2682_2685del	ENSP00000504346.2:n.2682_2685del
ENST00000678264.2:c.2521_2524del	ENSP00000503157.2:n.2521_2524del
ENST00000682070.1:n.2648_2651del
ENST00000682639.1:c.239+96_239+99del
ENST00000682813.1:n.2735_2738del
ENST00000683231.1:c.240-52_240-49del
ENST00000683392.1:n.4930_4933del
ENST00000683900.1:n.4238_4241del
ENST00000684062.1:n.3004_3007del
ENST00000684399.1:c.240-87_240-84del
ENST00000684579.1:n.4184_4187del
ENST00000341012.12:c.160_163del	ENSP00000343034.7:n.160_163del
ENST00000372220.5:c.160_163del	ENSP00000361294.5:n.160_163del
ENST00000372228.9:c.160_163del	ENSP00000361302.3:n.160_163del
ENST00000402686.8:c.160_163del MANE Select	ENSP00000385797.4:n.160_163del
ENST00000676640.1:c.160_163del	ENSP00000503281.1:n.160_163del
ENST00000676803.1:c.160_163del	ENSP00000503093.1:n.160_163del
ENST00000676835.1:c.1553_1556del	ENSP00000502911.1:n.1553_1556del
ENST00000677029.1:c.160_163del	ENSP00000502936.1:n.160_163del
ENST00000677099.1:c.2048_2051del	ENSP00000504553.1:n.2048_2051del
ENST00000677216.1:c.160_163del	ENSP00000503772.1:n.160_163del
ENST00000677295.1:c.1560_1563del	ENSP00000504346.1:n.1560_1563del
ENST00000677444.1:c.2283_2286del
ENST00000677626.1:c.160_163del	ENSP00000503552.1:n.160_163del
ENST00000677853.1:c.1346_1349del	ENSP00000503488.1:n.1346_1349del
ENST00000678303.1:c.160_163del	ENSP00000503696.1:n.160_163del
ENST00000678366.1:c.2587_2590del	ENSP00000504353.1:n.2587_2590del
ENST00000678546.1:c.2283_2286del	ENSP00000503062.1:n.2283_2286del
ENST00000678548.1:c.2477_2480del	ENSP00000503934.1:n.2477_2480del
ENST00000678626.1:n.2174_2177del
ENST00000678739.1:c.2504_2507del	ENSP00000503806.1:n.2504_2507del
ENST00000678833.1:c.2090_2093del	ENSP00000503893.1:n.2090_2093del
ENST00000679023.1:c.65-81_65-78del	ENSP00000503718.1:n.65-81_65-78del
ENST00000679076.1:c.1957_1960del
ENST00000679111.1:c.1094_1097del	ENSP00000504257.1:n.1094_1097del
ENST00000341012.11:c.160_163del	ENSP00000343034.7:n.160_163del
ENST00000372220.4:c.1201_1204del	ENSP00000361294.4:n.1201_1204del
ENST00000372228.7:c.160_163del	ENSP00000361302.3:n.160_163del
ENST00000402686.7:c.160_163del	ENSP00000385797.3:n.160_163del
ENST00000404875.6:c.160_163del	ENSP00000384531.2:n.160_163del
ENST00000423007.5:c.160_163del	ENSP00000404119.1:n.160_163del
ENST00000485278.5:n.2888_2891del
NM_001077365.1:c.160_163del	NP_001070833.1:n.160_163del
NM_001077366.1:c.160_163del	NP_001070834.1:n.160_163del
NM_001136113.1:c.160_163del	NP_001129585.1:n.160_163del
NM_001136114.1:c.160_163del	NP_001129586.1:n.160_163del
NM_007171.3:c.160_163del	NP_009102.3:n.160_163del
XM_005272156.1:c.160_163del	XP_005272213.1:n.160_163del
XM_005272158.1:c.160_163del	XP_005272215.1:n.160_163del
XM_005272159.1:c.160_163del	XP_005272216.1:n.160_163del
XM_005272162.1:c.160_163del	XP_005272219.1:n.160_163del
XM_006716932.1:c.160_163del	XP_006716995.1:n.160_163del
XM_011518140.1:c.160_163del	XP_011516442.1:n.160_163del
XM_011518141.1:c.160_163del	XP_011516443.1:n.160_163del
XM_011518142.1:c.160_163del	XP_011516444.1:n.160_163del
XM_011518143.1:c.160_163del	XP_011516445.1:n.160_163del
XM_011518145.1:c.160_163del	XP_011516447.1:n.160_163del
XM_011518147.1:c.160_163del	XP_011516449.1:n.160_163del
XR_929703.1:n.2485-81_2485-78del
NM_001353193.1:c.160_163del	NP_001340122.1:n.160_163del
NM_001353194.1:c.160_163del	NP_001340123.1:n.160_163del
NM_001353195.1:c.160_163del	NP_001340124.1:n.160_163del
NM_001353196.1:c.160_163del	NP_001340125.1:n.160_163del
NM_001353197.1:c.160_163del	NP_001340126.1:n.160_163del
NM_001353198.1:c.160_163del	NP_001340127.1:n.160_163del
NM_001353199.1:c.160_163del	NP_001340128.1:n.160_163del
NM_001353200.1:c.160_163del	NP_001340129.1:n.160_163del
NR_148391.1:n.2293-81_2293-78del
NR_148392.1:n.2511-81_2511-78del
NR_148393.1:n.2527_2530del
NR_148394.1:n.2281_2284del
NR_148395.1:n.2679_2682del
NR_148396.1:n.2313_2316del
NR_148397.1:n.2438_2441del
NR_148398.1:n.2393_2396del
NR_148399.1:n.2824-81_2824-78del
NR_148400.1:n.2518_2521del
XM_005272162.3:c.160_163del	XP_005272219.1:n.160_163del
XM_006716932.2:c.160_163del	XP_006716995.1:n.160_163del
XM_011518140.2:c.160_163del	XP_011516442.1:n.160_163del
XM_011518141.2:c.160_163del	XP_011516443.1:n.160_163del
XM_011518142.2:c.160_163del	XP_011516444.1:n.160_163del
XM_011518143.2:c.160_163del	XP_011516445.1:n.160_163del
XM_011518145.2:c.160_163del	XP_011516447.1:n.160_163del
XM_017014205.2:c.160_163del	XP_016869694.1:n.160_163del
XM_024447380.1:c.160_163del	XP_024303148.1:n.160_163del
XM_024447381.1:c.160_163del	XP_024303149.1:n.160_163del
XM_024447382.1:c.160_163del	XP_024303150.1:n.160_163del
XR_001746160.2:n.2413-81_2413-78del
XR_001746162.2:n.2713_2716del
XR_001746164.1:n.2430_2433del
XR_001746166.2:n.2630-81_2630-78del
NM_001077365.2:c.160_163del MANE Select	NP_001070833.1:n.160_163del
NM_001077366.2:c.160_163del	NP_001070834.1:n.160_163del
NM_001136113.2:c.160_163del	NP_001129585.1:n.160_163del
NM_001136114.2:c.160_163del	NP_001129586.1:n.160_163del
NM_001353193.2:c.160_163del	NP_001340122.2:n.160_163del
NM_001353194.2:c.160_163del	NP_001340123.1:n.160_163del
NM_001353195.2:c.160_163del	NP_001340124.1:n.160_163del
NM_001353196.2:c.160_163del	NP_001340125.1:n.160_163del
NM_001353197.2:c.160_163del	NP_001340126.2:n.160_163del
NM_001353198.2:c.160_163del	NP_001340127.2:n.160_163del
NM_001353199.2:c.160_163del	NP_001340128.2:n.160_163del
NM_001353200.2:c.160_163del	NP_001340129.1:n.160_163del
NM_001374689.1:c.160_163del	NP_001361618.1:n.160_163del
NM_001374690.1:c.160_163del	NP_001361619.1:n.160_163del
NM_001374691.1:c.160_163del	NP_001361620.1:n.160_163del
NM_001374692.1:c.160_163del	NP_001361621.1:n.160_163del
NM_001374693.1:c.160_163del	NP_001361622.1:n.160_163del
NM_001374695.1:c.160_163del	NP_001361624.1:n.160_163del
NM_007171.4:c.160_163del	NP_009102.4:n.160_163del
NR_148391.2:n.2277-81_2277-78del
NR_148392.2:n.2495-81_2495-78del
NR_148393.2:n.2511_2514del
NR_148394.2:n.2265_2268del
NR_148395.2:n.2663_2666del
NR_148396.2:n.2297_2300del
NR_148397.2:n.2422_2425del
NR_148398.2:n.2377_2380del
NR_148399.2:n.2808-81_2808-78del
NR_148400.2:n.2502_2505del

HGVS	Amino-acid Change
ENST00000341012.13:c.160_163del	ENSP00000343034.7:n.160_163del
ENST00000404875.7:n.2878_2881del
ENST00000677295.2:c.2682_2685del	ENSP00000504346.2:n.2682_2685del
ENST00000678264.2:c.2521_2524del	ENSP00000503157.2:n.2521_2524del
ENST00000682070.1:n.2648_2651del
ENST00000682639.1:c.239+96_239+99del
ENST00000682813.1:n.2735_2738del
ENST00000683231.1:c.240-52_240-49del
ENST00000683392.1:n.4930_4933del
ENST00000683900.1:n.4238_4241del
ENST00000684062.1:n.3004_3007del
ENST00000684399.1:c.240-87_240-84del
ENST00000684579.1:n.4184_4187del
ENST00000341012.12:c.160_163del	ENSP00000343034.7:n.160_163del
ENST00000372220.5:c.160_163del	ENSP00000361294.5:n.160_163del
ENST00000372228.9:c.160_163del	ENSP00000361302.3:n.160_163del
ENST00000402686.8:c.160_163del MANE Select	ENSP00000385797.4:n.160_163del
ENST00000676640.1:c.160_163del	ENSP00000503281.1:n.160_163del
ENST00000676803.1:c.160_163del	ENSP00000503093.1:n.160_163del
ENST00000676835.1:c.1553_1556del	ENSP00000502911.1:n.1553_1556del
ENST00000677029.1:c.160_163del	ENSP00000502936.1:n.160_163del
ENST00000677099.1:c.2048_2051del	ENSP00000504553.1:n.2048_2051del
ENST00000677216.1:c.160_163del	ENSP00000503772.1:n.160_163del
ENST00000677295.1:c.1560_1563del	ENSP00000504346.1:n.1560_1563del
ENST00000677444.1:c.2283_2286del
ENST00000677626.1:c.160_163del	ENSP00000503552.1:n.160_163del
ENST00000677853.1:c.1346_1349del	ENSP00000503488.1:n.1346_1349del
ENST00000678303.1:c.160_163del	ENSP00000503696.1:n.160_163del
ENST00000678366.1:c.2587_2590del	ENSP00000504353.1:n.2587_2590del
ENST00000678546.1:c.2283_2286del	ENSP00000503062.1:n.2283_2286del
ENST00000678548.1:c.2477_2480del	ENSP00000503934.1:n.2477_2480del
ENST00000678626.1:n.2174_2177del
ENST00000678739.1:c.2504_2507del	ENSP00000503806.1:n.2504_2507del
ENST00000678833.1:c.2090_2093del	ENSP00000503893.1:n.2090_2093del
ENST00000679023.1:c.65-81_65-78del	ENSP00000503718.1:n.65-81_65-78del
ENST00000679076.1:c.1957_1960del
ENST00000679111.1:c.1094_1097del	ENSP00000504257.1:n.1094_1097del
ENST00000341012.11:c.160_163del	ENSP00000343034.7:n.160_163del
ENST00000372220.4:c.1201_1204del	ENSP00000361294.4:n.1201_1204del
ENST00000372228.7:c.160_163del	ENSP00000361302.3:n.160_163del
ENST00000402686.7:c.160_163del	ENSP00000385797.3:n.160_163del
ENST00000404875.6:c.160_163del	ENSP00000384531.2:n.160_163del
ENST00000423007.5:c.160_163del	ENSP00000404119.1:n.160_163del
ENST00000485278.5:n.2888_2891del
NM_001077365.1:c.160_163del	NP_001070833.1:n.160_163del
NM_001077366.1:c.160_163del	NP_001070834.1:n.160_163del
NM_001136113.1:c.160_163del	NP_001129585.1:n.160_163del
NM_001136114.1:c.160_163del	NP_001129586.1:n.160_163del
NM_007171.3:c.160_163del	NP_009102.3:n.160_163del
XM_005272156.1:c.160_163del	XP_005272213.1:n.160_163del
XM_005272158.1:c.160_163del	XP_005272215.1:n.160_163del
XM_005272159.1:c.160_163del	XP_005272216.1:n.160_163del
XM_005272162.1:c.160_163del	XP_005272219.1:n.160_163del
XM_006716932.1:c.160_163del	XP_006716995.1:n.160_163del
XM_011518140.1:c.160_163del	XP_011516442.1:n.160_163del
XM_011518141.1:c.160_163del	XP_011516443.1:n.160_163del
XM_011518142.1:c.160_163del	XP_011516444.1:n.160_163del
XM_011518143.1:c.160_163del	XP_011516445.1:n.160_163del
XM_011518145.1:c.160_163del	XP_011516447.1:n.160_163del
XM_011518147.1:c.160_163del	XP_011516449.1:n.160_163del
XR_929703.1:n.2485-81_2485-78del
NM_001353193.1:c.160_163del	NP_001340122.1:n.160_163del
NM_001353194.1:c.160_163del	NP_001340123.1:n.160_163del
NM_001353195.1:c.160_163del	NP_001340124.1:n.160_163del
NM_001353196.1:c.160_163del	NP_001340125.1:n.160_163del
NM_001353197.1:c.160_163del	NP_001340126.1:n.160_163del
NM_001353198.1:c.160_163del	NP_001340127.1:n.160_163del
NM_001353199.1:c.160_163del	NP_001340128.1:n.160_163del
NM_001353200.1:c.160_163del	NP_001340129.1:n.160_163del
NR_148391.1:n.2293-81_2293-78del
NR_148392.1:n.2511-81_2511-78del
NR_148393.1:n.2527_2530del
NR_148394.1:n.2281_2284del
NR_148395.1:n.2679_2682del
NR_148396.1:n.2313_2316del
NR_148397.1:n.2438_2441del
NR_148398.1:n.2393_2396del
NR_148399.1:n.2824-81_2824-78del
NR_148400.1:n.2518_2521del
XM_005272162.3:c.160_163del	XP_005272219.1:n.160_163del
XM_006716932.2:c.160_163del	XP_006716995.1:n.160_163del
XM_011518140.2:c.160_163del	XP_011516442.1:n.160_163del
XM_011518141.2:c.160_163del	XP_011516443.1:n.160_163del
XM_011518142.2:c.160_163del	XP_011516444.1:n.160_163del
XM_011518143.2:c.160_163del	XP_011516445.1:n.160_163del
XM_011518145.2:c.160_163del	XP_011516447.1:n.160_163del
XM_017014205.2:c.160_163del	XP_016869694.1:n.160_163del
XM_024447380.1:c.160_163del	XP_024303148.1:n.160_163del
XM_024447381.1:c.160_163del	XP_024303149.1:n.160_163del
XM_024447382.1:c.160_163del	XP_024303150.1:n.160_163del
XR_001746160.2:n.2413-81_2413-78del
XR_001746162.2:n.2713_2716del
XR_001746164.1:n.2430_2433del
XR_001746166.2:n.2630-81_2630-78del
NM_001077365.2:c.160_163del MANE Select	NP_001070833.1:n.160_163del
NM_001077366.2:c.160_163del	NP_001070834.1:n.160_163del
NM_001136113.2:c.160_163del	NP_001129585.1:n.160_163del
NM_001136114.2:c.160_163del	NP_001129586.1:n.160_163del
NM_001353193.2:c.160_163del	NP_001340122.2:n.160_163del
NM_001353194.2:c.160_163del	NP_001340123.1:n.160_163del
NM_001353195.2:c.160_163del	NP_001340124.1:n.160_163del
NM_001353196.2:c.160_163del	NP_001340125.1:n.160_163del
NM_001353197.2:c.160_163del	NP_001340126.2:n.160_163del
NM_001353198.2:c.160_163del	NP_001340127.2:n.160_163del
NM_001353199.2:c.160_163del	NP_001340128.2:n.160_163del
NM_001353200.2:c.160_163del	NP_001340129.1:n.160_163del
NM_001374689.1:c.160_163del	NP_001361618.1:n.160_163del
NM_001374690.1:c.160_163del	NP_001361619.1:n.160_163del
NM_001374691.1:c.160_163del	NP_001361620.1:n.160_163del
NM_001374692.1:c.160_163del	NP_001361621.1:n.160_163del
NM_001374693.1:c.160_163del	NP_001361622.1:n.160_163del
NM_001374695.1:c.160_163del	NP_001361624.1:n.160_163del
NM_007171.4:c.160_163del	NP_009102.4:n.160_163del
NR_148391.2:n.2277-81_2277-78del
NR_148392.2:n.2495-81_2495-78del
NR_148393.2:n.2511_2514del
NR_148394.2:n.2265_2268del
NR_148395.2:n.2663_2666del
NR_148396.2:n.2297_2300del
NR_148397.2:n.2422_2425del
NR_148398.2:n.2377_2380del
NR_148399.2:n.2808-81_2808-78del
NR_148400.2:n.2502_2505del

Linked Data

Genomic Alleles

Transcript Alleles