Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523467_131523470dup , CM000671.2:g.131523467_131523470dup	GRCh38
NC_000009.11:g.134398854_134398857dup , CM000671.1:g.134398854_134398857dup	GRCh37
NC_000009.10:g.133388675_133388678dup	NCBI36
NG_008896.1:g.25566_25569dup
NG_008896.2:g.25566_25569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.361_364dup	ENSP00000343034.7:n.361_364dup
ENST00000404875.7:n.3079_3082dup
ENST00000677295.2:c.2883_2886dup	ENSP00000504346.2:n.2883_2886dup
ENST00000678264.2:c.2722_2725dup	ENSP00000503157.2:n.2722_2725dup
ENST00000682070.1:n.2849_2852dup
ENST00000682639.1:c.244_247dup
ENST00000682813.1:n.2936_2939dup
ENST00000683231.1:c.389_392dup
ENST00000683392.1:n.5131_5134dup
ENST00000683900.1:n.4439_4442dup
ENST00000684062.1:n.3205_3208dup
ENST00000684399.1:c.354_357dup
ENST00000684579.1:n.4385_4388dup
ENST00000341012.12:c.361_364dup	ENSP00000343034.7:n.361_364dup
ENST00000372220.5:c.361_364dup	ENSP00000361294.5:n.361_364dup
ENST00000372228.9:c.361_364dup	ENSP00000361302.3:n.361_364dup
ENST00000402686.8:c.361_364dup MANE Select	ENSP00000385797.4:n.361_364dup
ENST00000676640.1:c.361_364dup	ENSP00000503281.1:n.361_364dup
ENST00000676803.1:c.361_364dup	ENSP00000503093.1:n.361_364dup
ENST00000676835.1:c.1754_1757dup	ENSP00000502911.1:n.1754_1757dup
ENST00000677099.1:c.2249_2252dup	ENSP00000504553.1:n.2249_2252dup
ENST00000677295.1:c.1761_1764dup	ENSP00000504346.1:n.1761_1764dup
ENST00000677444.1:c.2484_2487dup
ENST00000677626.1:c.361_364dup	ENSP00000503552.1:n.361_364dup
ENST00000677853.1:c.1547_1550dup	ENSP00000503488.1:n.1547_1550dup
ENST00000678366.1:c.2788_2791dup	ENSP00000504353.1:n.2788_2791dup
ENST00000678546.1:c.2484_2487dup	ENSP00000503062.1:n.2484_2487dup
ENST00000678548.1:c.2678_2681dup	ENSP00000503934.1:n.2678_2681dup
ENST00000678626.1:n.2375_2378dup
ENST00000678739.1:c.2705_2708dup	ENSP00000503806.1:n.2705_2708dup
ENST00000678833.1:c.2291_2294dup	ENSP00000503893.1:n.2291_2294dup
ENST00000679023.1:c.185_188dup	ENSP00000503718.1:n.185_188dup
ENST00000679076.1:c.2158_2161dup
ENST00000679111.1:c.1295_1298dup	ENSP00000504257.1:n.1295_1298dup
ENST00000341012.11:c.361_364dup	ENSP00000343034.7:n.361_364dup
ENST00000372220.4:c.1402_1405dup	ENSP00000361294.4:n.1402_1405dup
ENST00000372228.7:c.361_364dup	ENSP00000361302.3:n.361_364dup
ENST00000402686.7:c.361_364dup	ENSP00000385797.3:n.361_364dup
ENST00000404875.6:c.361_364dup	ENSP00000384531.2:n.361_364dup
ENST00000423007.5:c.361_364dup	ENSP00000404119.1:n.361_364dup
ENST00000485278.5:n.3089_3092dup
NM_001077365.1:c.361_364dup	NP_001070833.1:n.361_364dup
NM_001077366.1:c.361_364dup	NP_001070834.1:n.361_364dup
NM_001136113.1:c.361_364dup	NP_001129585.1:n.361_364dup
NM_001136114.1:c.361_364dup	NP_001129586.1:n.361_364dup
NM_007171.3:c.361_364dup	NP_009102.3:n.361_364dup
XM_005272156.1:c.361_364dup	XP_005272213.1:n.361_364dup
XM_005272158.1:c.361_364dup	XP_005272215.1:n.361_364dup
XM_005272159.1:c.361_364dup	XP_005272216.1:n.361_364dup
XM_005272162.1:c.361_364dup	XP_005272219.1:n.361_364dup
XM_006716932.1:c.361_364dup	XP_006716995.1:n.361_364dup
XM_011518140.1:c.361_364dup	XP_011516442.1:n.361_364dup
XM_011518141.1:c.361_364dup	XP_011516443.1:n.361_364dup
XM_011518142.1:c.361_364dup	XP_011516444.1:n.361_364dup
XM_011518143.1:c.361_364dup	XP_011516445.1:n.361_364dup
XM_011518145.1:c.361_364dup	XP_011516447.1:n.361_364dup
XM_011518147.1:c.361_364dup	XP_011516449.1:n.361_364dup
XR_929703.1:n.2605_2608dup
NM_001353193.1:c.361_364dup	NP_001340122.1:n.361_364dup
NM_001353194.1:c.361_364dup	NP_001340123.1:n.361_364dup
NM_001353195.1:c.361_364dup	NP_001340124.1:n.361_364dup
NM_001353196.1:c.361_364dup	NP_001340125.1:n.361_364dup
NM_001353197.1:c.361_364dup	NP_001340126.1:n.361_364dup
NM_001353198.1:c.361_364dup	NP_001340127.1:n.361_364dup
NM_001353199.1:c.361_364dup	NP_001340128.1:n.361_364dup
NM_001353200.1:c.361_364dup	NP_001340129.1:n.361_364dup
NR_148391.1:n.2413_2416dup
NR_148392.1:n.2631_2634dup
NR_148393.1:n.2728_2731dup
NR_148394.1:n.2482_2485dup
NR_148395.1:n.2880_2883dup
NR_148396.1:n.2514_2517dup
NR_148397.1:n.2639_2642dup
NR_148398.1:n.2594_2597dup
NR_148399.1:n.2944_2947dup
NR_148400.1:n.2719_2722dup
XM_005272162.3:c.361_364dup	XP_005272219.1:n.361_364dup
XM_006716932.2:c.361_364dup	XP_006716995.1:n.361_364dup
XM_011518140.2:c.361_364dup	XP_011516442.1:n.361_364dup
XM_011518141.2:c.361_364dup	XP_011516443.1:n.361_364dup
XM_011518142.2:c.361_364dup	XP_011516444.1:n.361_364dup
XM_011518143.2:c.361_364dup	XP_011516445.1:n.361_364dup
XM_011518145.2:c.361_364dup	XP_011516447.1:n.361_364dup
XM_017014205.2:c.361_364dup	XP_016869694.1:n.361_364dup
XM_024447380.1:c.361_364dup	XP_024303148.1:n.361_364dup
XM_024447381.1:c.361_364dup	XP_024303149.1:n.361_364dup
XM_024447382.1:c.361_364dup	XP_024303150.1:n.361_364dup
XR_001746160.2:n.2533_2536dup
XR_001746162.2:n.2914_2917dup
XR_001746164.1:n.2631_2634dup
XR_001746166.2:n.2750_2753dup
NM_001077365.2:c.361_364dup MANE Select	NP_001070833.1:n.361_364dup
NM_001077366.2:c.361_364dup	NP_001070834.1:n.361_364dup
NM_001136113.2:c.361_364dup	NP_001129585.1:n.361_364dup
NM_001136114.2:c.361_364dup	NP_001129586.1:n.361_364dup
NM_001353193.2:c.361_364dup	NP_001340122.2:n.361_364dup
NM_001353194.2:c.361_364dup	NP_001340123.1:n.361_364dup
NM_001353195.2:c.361_364dup	NP_001340124.1:n.361_364dup
NM_001353196.2:c.361_364dup	NP_001340125.1:n.361_364dup
NM_001353197.2:c.361_364dup	NP_001340126.2:n.361_364dup
NM_001353198.2:c.361_364dup	NP_001340127.2:n.361_364dup
NM_001353199.2:c.361_364dup	NP_001340128.2:n.361_364dup
NM_001353200.2:c.361_364dup	NP_001340129.1:n.361_364dup
NM_001374689.1:c.361_364dup	NP_001361618.1:n.361_364dup
NM_001374690.1:c.361_364dup	NP_001361619.1:n.361_364dup
NM_001374691.1:c.361_364dup	NP_001361620.1:n.361_364dup
NM_001374692.1:c.361_364dup	NP_001361621.1:n.361_364dup
NM_001374693.1:c.361_364dup	NP_001361622.1:n.361_364dup
NM_001374695.1:c.361_364dup	NP_001361624.1:n.361_364dup
NM_007171.4:c.361_364dup	NP_009102.4:n.361_364dup
NR_148391.2:n.2397_2400dup
NR_148392.2:n.2615_2618dup
NR_148393.2:n.2712_2715dup
NR_148394.2:n.2466_2469dup
NR_148395.2:n.2864_2867dup
NR_148396.2:n.2498_2501dup
NR_148397.2:n.2623_2626dup
NR_148398.2:n.2578_2581dup
NR_148399.2:n.2928_2931dup
NR_148400.2:n.2703_2706dup

HGVS	Amino-acid Change
ENST00000341012.13:c.361_364dup	ENSP00000343034.7:n.361_364dup
ENST00000404875.7:n.3079_3082dup
ENST00000677295.2:c.2883_2886dup	ENSP00000504346.2:n.2883_2886dup
ENST00000678264.2:c.2722_2725dup	ENSP00000503157.2:n.2722_2725dup
ENST00000682070.1:n.2849_2852dup
ENST00000682639.1:c.244_247dup
ENST00000682813.1:n.2936_2939dup
ENST00000683231.1:c.389_392dup
ENST00000683392.1:n.5131_5134dup
ENST00000683900.1:n.4439_4442dup
ENST00000684062.1:n.3205_3208dup
ENST00000684399.1:c.354_357dup
ENST00000684579.1:n.4385_4388dup
ENST00000341012.12:c.361_364dup	ENSP00000343034.7:n.361_364dup
ENST00000372220.5:c.361_364dup	ENSP00000361294.5:n.361_364dup
ENST00000372228.9:c.361_364dup	ENSP00000361302.3:n.361_364dup
ENST00000402686.8:c.361_364dup MANE Select	ENSP00000385797.4:n.361_364dup
ENST00000676640.1:c.361_364dup	ENSP00000503281.1:n.361_364dup
ENST00000676803.1:c.361_364dup	ENSP00000503093.1:n.361_364dup
ENST00000676835.1:c.1754_1757dup	ENSP00000502911.1:n.1754_1757dup
ENST00000677099.1:c.2249_2252dup	ENSP00000504553.1:n.2249_2252dup
ENST00000677295.1:c.1761_1764dup	ENSP00000504346.1:n.1761_1764dup
ENST00000677444.1:c.2484_2487dup
ENST00000677626.1:c.361_364dup	ENSP00000503552.1:n.361_364dup
ENST00000677853.1:c.1547_1550dup	ENSP00000503488.1:n.1547_1550dup
ENST00000678366.1:c.2788_2791dup	ENSP00000504353.1:n.2788_2791dup
ENST00000678546.1:c.2484_2487dup	ENSP00000503062.1:n.2484_2487dup
ENST00000678548.1:c.2678_2681dup	ENSP00000503934.1:n.2678_2681dup
ENST00000678626.1:n.2375_2378dup
ENST00000678739.1:c.2705_2708dup	ENSP00000503806.1:n.2705_2708dup
ENST00000678833.1:c.2291_2294dup	ENSP00000503893.1:n.2291_2294dup
ENST00000679023.1:c.185_188dup	ENSP00000503718.1:n.185_188dup
ENST00000679076.1:c.2158_2161dup
ENST00000679111.1:c.1295_1298dup	ENSP00000504257.1:n.1295_1298dup
ENST00000341012.11:c.361_364dup	ENSP00000343034.7:n.361_364dup
ENST00000372220.4:c.1402_1405dup	ENSP00000361294.4:n.1402_1405dup
ENST00000372228.7:c.361_364dup	ENSP00000361302.3:n.361_364dup
ENST00000402686.7:c.361_364dup	ENSP00000385797.3:n.361_364dup
ENST00000404875.6:c.361_364dup	ENSP00000384531.2:n.361_364dup
ENST00000423007.5:c.361_364dup	ENSP00000404119.1:n.361_364dup
ENST00000485278.5:n.3089_3092dup
NM_001077365.1:c.361_364dup	NP_001070833.1:n.361_364dup
NM_001077366.1:c.361_364dup	NP_001070834.1:n.361_364dup
NM_001136113.1:c.361_364dup	NP_001129585.1:n.361_364dup
NM_001136114.1:c.361_364dup	NP_001129586.1:n.361_364dup
NM_007171.3:c.361_364dup	NP_009102.3:n.361_364dup
XM_005272156.1:c.361_364dup	XP_005272213.1:n.361_364dup
XM_005272158.1:c.361_364dup	XP_005272215.1:n.361_364dup
XM_005272159.1:c.361_364dup	XP_005272216.1:n.361_364dup
XM_005272162.1:c.361_364dup	XP_005272219.1:n.361_364dup
XM_006716932.1:c.361_364dup	XP_006716995.1:n.361_364dup
XM_011518140.1:c.361_364dup	XP_011516442.1:n.361_364dup
XM_011518141.1:c.361_364dup	XP_011516443.1:n.361_364dup
XM_011518142.1:c.361_364dup	XP_011516444.1:n.361_364dup
XM_011518143.1:c.361_364dup	XP_011516445.1:n.361_364dup
XM_011518145.1:c.361_364dup	XP_011516447.1:n.361_364dup
XM_011518147.1:c.361_364dup	XP_011516449.1:n.361_364dup
XR_929703.1:n.2605_2608dup
NM_001353193.1:c.361_364dup	NP_001340122.1:n.361_364dup
NM_001353194.1:c.361_364dup	NP_001340123.1:n.361_364dup
NM_001353195.1:c.361_364dup	NP_001340124.1:n.361_364dup
NM_001353196.1:c.361_364dup	NP_001340125.1:n.361_364dup
NM_001353197.1:c.361_364dup	NP_001340126.1:n.361_364dup
NM_001353198.1:c.361_364dup	NP_001340127.1:n.361_364dup
NM_001353199.1:c.361_364dup	NP_001340128.1:n.361_364dup
NM_001353200.1:c.361_364dup	NP_001340129.1:n.361_364dup
NR_148391.1:n.2413_2416dup
NR_148392.1:n.2631_2634dup
NR_148393.1:n.2728_2731dup
NR_148394.1:n.2482_2485dup
NR_148395.1:n.2880_2883dup
NR_148396.1:n.2514_2517dup
NR_148397.1:n.2639_2642dup
NR_148398.1:n.2594_2597dup
NR_148399.1:n.2944_2947dup
NR_148400.1:n.2719_2722dup
XM_005272162.3:c.361_364dup	XP_005272219.1:n.361_364dup
XM_006716932.2:c.361_364dup	XP_006716995.1:n.361_364dup
XM_011518140.2:c.361_364dup	XP_011516442.1:n.361_364dup
XM_011518141.2:c.361_364dup	XP_011516443.1:n.361_364dup
XM_011518142.2:c.361_364dup	XP_011516444.1:n.361_364dup
XM_011518143.2:c.361_364dup	XP_011516445.1:n.361_364dup
XM_011518145.2:c.361_364dup	XP_011516447.1:n.361_364dup
XM_017014205.2:c.361_364dup	XP_016869694.1:n.361_364dup
XM_024447380.1:c.361_364dup	XP_024303148.1:n.361_364dup
XM_024447381.1:c.361_364dup	XP_024303149.1:n.361_364dup
XM_024447382.1:c.361_364dup	XP_024303150.1:n.361_364dup
XR_001746160.2:n.2533_2536dup
XR_001746162.2:n.2914_2917dup
XR_001746164.1:n.2631_2634dup
XR_001746166.2:n.2750_2753dup
NM_001077365.2:c.361_364dup MANE Select	NP_001070833.1:n.361_364dup
NM_001077366.2:c.361_364dup	NP_001070834.1:n.361_364dup
NM_001136113.2:c.361_364dup	NP_001129585.1:n.361_364dup
NM_001136114.2:c.361_364dup	NP_001129586.1:n.361_364dup
NM_001353193.2:c.361_364dup	NP_001340122.2:n.361_364dup
NM_001353194.2:c.361_364dup	NP_001340123.1:n.361_364dup
NM_001353195.2:c.361_364dup	NP_001340124.1:n.361_364dup
NM_001353196.2:c.361_364dup	NP_001340125.1:n.361_364dup
NM_001353197.2:c.361_364dup	NP_001340126.2:n.361_364dup
NM_001353198.2:c.361_364dup	NP_001340127.2:n.361_364dup
NM_001353199.2:c.361_364dup	NP_001340128.2:n.361_364dup
NM_001353200.2:c.361_364dup	NP_001340129.1:n.361_364dup
NM_001374689.1:c.361_364dup	NP_001361618.1:n.361_364dup
NM_001374690.1:c.361_364dup	NP_001361619.1:n.361_364dup
NM_001374691.1:c.361_364dup	NP_001361620.1:n.361_364dup
NM_001374692.1:c.361_364dup	NP_001361621.1:n.361_364dup
NM_001374693.1:c.361_364dup	NP_001361622.1:n.361_364dup
NM_001374695.1:c.361_364dup	NP_001361624.1:n.361_364dup
NM_007171.4:c.361_364dup	NP_009102.4:n.361_364dup
NR_148391.2:n.2397_2400dup
NR_148392.2:n.2615_2618dup
NR_148393.2:n.2712_2715dup
NR_148394.2:n.2466_2469dup
NR_148395.2:n.2864_2867dup
NR_148396.2:n.2498_2501dup
NR_148397.2:n.2623_2626dup
NR_148398.2:n.2578_2581dup
NR_148399.2:n.2928_2931dup
NR_148400.2:n.2703_2706dup

Linked Data

Genomic Alleles

Transcript Alleles