Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523530_131523532del , CM000671.2:g.131523530_131523532del	GRCh38
NC_000009.11:g.134398917_134398919del , CM000671.1:g.134398917_134398919del	GRCh37
NC_000009.10:g.133388738_133388740del	NCBI36
NG_008896.1:g.25629_25631del
NG_008896.2:g.25629_25631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.424_426del	ENSP00000343034.7:n.424_426del
ENST00000404875.7:n.3142_3144del
ENST00000677295.2:c.2946_2948del	ENSP00000504346.2:n.2946_2948del
ENST00000678264.2:c.2785_2787del	ENSP00000503157.2:n.2785_2787del
ENST00000682070.1:n.2912_2914del
ENST00000682639.1:c.307_309del
ENST00000682813.1:n.2999_3001del
ENST00000683231.1:c.452_454del
ENST00000683392.1:n.5194_5196del
ENST00000683900.1:n.4502_4504del
ENST00000684062.1:n.3268_3270del
ENST00000684399.1:c.417_419del
ENST00000684579.1:n.4448_4450del
ENST00000341012.12:c.424_426del	ENSP00000343034.7:n.424_426del
ENST00000372220.5:c.424_426del	ENSP00000361294.5:n.424_426del
ENST00000372228.9:c.424_426del	ENSP00000361302.3:n.424_426del
ENST00000402686.8:c.424_426del MANE Select	ENSP00000385797.4:n.424_426del
ENST00000676640.1:c.424_426del	ENSP00000503281.1:n.424_426del
ENST00000676803.1:c.424_426del	ENSP00000503093.1:n.424_426del
ENST00000676835.1:c.1817_1819del	ENSP00000502911.1:n.1817_1819del
ENST00000677295.1:c.1824_1826del	ENSP00000504346.1:n.1824_1826del
ENST00000677444.1:c.2547_2549del
ENST00000677626.1:c.424_426del	ENSP00000503552.1:n.424_426del
ENST00000677853.1:c.1610_1612del	ENSP00000503488.1:n.1610_1612del
ENST00000678546.1:c.2547_2549del	ENSP00000503062.1:n.2547_2549del
ENST00000678548.1:c.2741_2743del	ENSP00000503934.1:n.2741_2743del
ENST00000678626.1:n.2438_2440del
ENST00000678739.1:c.2768_2770del	ENSP00000503806.1:n.2768_2770del
ENST00000678833.1:c.2354_2356del	ENSP00000503893.1:n.2354_2356del
ENST00000679023.1:c.248_250del	ENSP00000503718.1:n.248_250del
ENST00000679076.1:c.2221_2223del
ENST00000679111.1:c.1358_1360del	ENSP00000504257.1:n.1358_1360del
ENST00000341012.11:c.424_426del	ENSP00000343034.7:n.424_426del
ENST00000372220.4:c.1465_1467del	ENSP00000361294.4:n.1465_1467del
ENST00000372228.7:c.424_426del	ENSP00000361302.3:n.424_426del
ENST00000402686.7:c.424_426del	ENSP00000385797.3:n.424_426del
ENST00000404875.6:c.424_426del	ENSP00000384531.2:n.424_426del
ENST00000423007.5:c.424_426del	ENSP00000404119.1:n.424_426del
ENST00000485278.5:n.3152_3154del
NM_001077365.1:c.424_426del	NP_001070833.1:n.424_426del
NM_001077366.1:c.424_426del	NP_001070834.1:n.424_426del
NM_001136113.1:c.424_426del	NP_001129585.1:n.424_426del
NM_001136114.1:c.424_426del	NP_001129586.1:n.424_426del
NM_007171.3:c.424_426del	NP_009102.3:n.424_426del
XM_005272156.1:c.424_426del	XP_005272213.1:n.424_426del
XM_005272158.1:c.424_426del	XP_005272215.1:n.424_426del
XM_005272159.1:c.424_426del	XP_005272216.1:n.424_426del
XM_005272162.1:c.424_426del	XP_005272219.1:n.424_426del
XM_006716932.1:c.424_426del	XP_006716995.1:n.424_426del
XM_011518140.1:c.424_426del	XP_011516442.1:n.424_426del
XM_011518141.1:c.424_426del	XP_011516443.1:n.424_426del
XM_011518142.1:c.424_426del	XP_011516444.1:n.424_426del
XM_011518143.1:c.424_426del	XP_011516445.1:n.424_426del
XM_011518145.1:c.424_426del	XP_011516447.1:n.424_426del
XM_011518147.1:c.424_426del	XP_011516449.1:n.424_426del
XR_929703.1:n.2668_2670del
NM_001353193.1:c.424_426del	NP_001340122.1:n.424_426del
NM_001353194.1:c.424_426del	NP_001340123.1:n.424_426del
NM_001353195.1:c.424_426del	NP_001340124.1:n.424_426del
NM_001353196.1:c.424_426del	NP_001340125.1:n.424_426del
NM_001353197.1:c.424_426del	NP_001340126.1:n.424_426del
NM_001353198.1:c.424_426del	NP_001340127.1:n.424_426del
NM_001353199.1:c.424_426del	NP_001340128.1:n.424_426del
NM_001353200.1:c.424_426del	NP_001340129.1:n.424_426del
NR_148391.1:n.2476_2478del
NR_148392.1:n.2694_2696del
NR_148393.1:n.2791_2793del
NR_148394.1:n.2545_2547del
NR_148395.1:n.2943_2945del
NR_148396.1:n.2577_2579del
NR_148397.1:n.2702_2704del
NR_148398.1:n.2657_2659del
NR_148399.1:n.3007_3009del
NR_148400.1:n.2782_2784del
XM_005272162.3:c.424_426del	XP_005272219.1:n.424_426del
XM_006716932.2:c.424_426del	XP_006716995.1:n.424_426del
XM_011518140.2:c.424_426del	XP_011516442.1:n.424_426del
XM_011518141.2:c.424_426del	XP_011516443.1:n.424_426del
XM_011518142.2:c.424_426del	XP_011516444.1:n.424_426del
XM_011518143.2:c.424_426del	XP_011516445.1:n.424_426del
XM_011518145.2:c.424_426del	XP_011516447.1:n.424_426del
XM_017014205.2:c.424_426del	XP_016869694.1:n.424_426del
XM_024447380.1:c.424_426del	XP_024303148.1:n.424_426del
XM_024447381.1:c.424_426del	XP_024303149.1:n.424_426del
XM_024447382.1:c.424_426del	XP_024303150.1:n.424_426del
XR_001746160.2:n.2596_2598del
XR_001746162.2:n.2977_2979del
XR_001746164.1:n.2694_2696del
XR_001746166.2:n.2813_2815del
NM_001077365.2:c.424_426del MANE Select	NP_001070833.1:n.424_426del
NM_001077366.2:c.424_426del	NP_001070834.1:n.424_426del
NM_001136113.2:c.424_426del	NP_001129585.1:n.424_426del
NM_001136114.2:c.424_426del	NP_001129586.1:n.424_426del
NM_001353193.2:c.424_426del	NP_001340122.2:n.424_426del
NM_001353194.2:c.424_426del	NP_001340123.1:n.424_426del
NM_001353195.2:c.424_426del	NP_001340124.1:n.424_426del
NM_001353196.2:c.424_426del	NP_001340125.1:n.424_426del
NM_001353197.2:c.424_426del	NP_001340126.2:n.424_426del
NM_001353198.2:c.424_426del	NP_001340127.2:n.424_426del
NM_001353199.2:c.424_426del	NP_001340128.2:n.424_426del
NM_001353200.2:c.424_426del	NP_001340129.1:n.424_426del
NM_001374689.1:c.424_426del	NP_001361618.1:n.424_426del
NM_001374690.1:c.424_426del	NP_001361619.1:n.424_426del
NM_001374691.1:c.424_426del	NP_001361620.1:n.424_426del
NM_001374692.1:c.424_426del	NP_001361621.1:n.424_426del
NM_001374693.1:c.424_426del	NP_001361622.1:n.424_426del
NM_001374695.1:c.424_426del	NP_001361624.1:n.424_426del
NM_007171.4:c.424_426del	NP_009102.4:n.424_426del
NR_148391.2:n.2460_2462del
NR_148392.2:n.2678_2680del
NR_148393.2:n.2775_2777del
NR_148394.2:n.2529_2531del
NR_148395.2:n.2927_2929del
NR_148396.2:n.2561_2563del
NR_148397.2:n.2686_2688del
NR_148398.2:n.2641_2643del
NR_148399.2:n.2991_2993del
NR_148400.2:n.2766_2768del

HGVS	Amino-acid Change
ENST00000341012.13:c.424_426del	ENSP00000343034.7:n.424_426del
ENST00000404875.7:n.3142_3144del
ENST00000677295.2:c.2946_2948del	ENSP00000504346.2:n.2946_2948del
ENST00000678264.2:c.2785_2787del	ENSP00000503157.2:n.2785_2787del
ENST00000682070.1:n.2912_2914del
ENST00000682639.1:c.307_309del
ENST00000682813.1:n.2999_3001del
ENST00000683231.1:c.452_454del
ENST00000683392.1:n.5194_5196del
ENST00000683900.1:n.4502_4504del
ENST00000684062.1:n.3268_3270del
ENST00000684399.1:c.417_419del
ENST00000684579.1:n.4448_4450del
ENST00000341012.12:c.424_426del	ENSP00000343034.7:n.424_426del
ENST00000372220.5:c.424_426del	ENSP00000361294.5:n.424_426del
ENST00000372228.9:c.424_426del	ENSP00000361302.3:n.424_426del
ENST00000402686.8:c.424_426del MANE Select	ENSP00000385797.4:n.424_426del
ENST00000676640.1:c.424_426del	ENSP00000503281.1:n.424_426del
ENST00000676803.1:c.424_426del	ENSP00000503093.1:n.424_426del
ENST00000676835.1:c.1817_1819del	ENSP00000502911.1:n.1817_1819del
ENST00000677295.1:c.1824_1826del	ENSP00000504346.1:n.1824_1826del
ENST00000677444.1:c.2547_2549del
ENST00000677626.1:c.424_426del	ENSP00000503552.1:n.424_426del
ENST00000677853.1:c.1610_1612del	ENSP00000503488.1:n.1610_1612del
ENST00000678546.1:c.2547_2549del	ENSP00000503062.1:n.2547_2549del
ENST00000678548.1:c.2741_2743del	ENSP00000503934.1:n.2741_2743del
ENST00000678626.1:n.2438_2440del
ENST00000678739.1:c.2768_2770del	ENSP00000503806.1:n.2768_2770del
ENST00000678833.1:c.2354_2356del	ENSP00000503893.1:n.2354_2356del
ENST00000679023.1:c.248_250del	ENSP00000503718.1:n.248_250del
ENST00000679076.1:c.2221_2223del
ENST00000679111.1:c.1358_1360del	ENSP00000504257.1:n.1358_1360del
ENST00000341012.11:c.424_426del	ENSP00000343034.7:n.424_426del
ENST00000372220.4:c.1465_1467del	ENSP00000361294.4:n.1465_1467del
ENST00000372228.7:c.424_426del	ENSP00000361302.3:n.424_426del
ENST00000402686.7:c.424_426del	ENSP00000385797.3:n.424_426del
ENST00000404875.6:c.424_426del	ENSP00000384531.2:n.424_426del
ENST00000423007.5:c.424_426del	ENSP00000404119.1:n.424_426del
ENST00000485278.5:n.3152_3154del
NM_001077365.1:c.424_426del	NP_001070833.1:n.424_426del
NM_001077366.1:c.424_426del	NP_001070834.1:n.424_426del
NM_001136113.1:c.424_426del	NP_001129585.1:n.424_426del
NM_001136114.1:c.424_426del	NP_001129586.1:n.424_426del
NM_007171.3:c.424_426del	NP_009102.3:n.424_426del
XM_005272156.1:c.424_426del	XP_005272213.1:n.424_426del
XM_005272158.1:c.424_426del	XP_005272215.1:n.424_426del
XM_005272159.1:c.424_426del	XP_005272216.1:n.424_426del
XM_005272162.1:c.424_426del	XP_005272219.1:n.424_426del
XM_006716932.1:c.424_426del	XP_006716995.1:n.424_426del
XM_011518140.1:c.424_426del	XP_011516442.1:n.424_426del
XM_011518141.1:c.424_426del	XP_011516443.1:n.424_426del
XM_011518142.1:c.424_426del	XP_011516444.1:n.424_426del
XM_011518143.1:c.424_426del	XP_011516445.1:n.424_426del
XM_011518145.1:c.424_426del	XP_011516447.1:n.424_426del
XM_011518147.1:c.424_426del	XP_011516449.1:n.424_426del
XR_929703.1:n.2668_2670del
NM_001353193.1:c.424_426del	NP_001340122.1:n.424_426del
NM_001353194.1:c.424_426del	NP_001340123.1:n.424_426del
NM_001353195.1:c.424_426del	NP_001340124.1:n.424_426del
NM_001353196.1:c.424_426del	NP_001340125.1:n.424_426del
NM_001353197.1:c.424_426del	NP_001340126.1:n.424_426del
NM_001353198.1:c.424_426del	NP_001340127.1:n.424_426del
NM_001353199.1:c.424_426del	NP_001340128.1:n.424_426del
NM_001353200.1:c.424_426del	NP_001340129.1:n.424_426del
NR_148391.1:n.2476_2478del
NR_148392.1:n.2694_2696del
NR_148393.1:n.2791_2793del
NR_148394.1:n.2545_2547del
NR_148395.1:n.2943_2945del
NR_148396.1:n.2577_2579del
NR_148397.1:n.2702_2704del
NR_148398.1:n.2657_2659del
NR_148399.1:n.3007_3009del
NR_148400.1:n.2782_2784del
XM_005272162.3:c.424_426del	XP_005272219.1:n.424_426del
XM_006716932.2:c.424_426del	XP_006716995.1:n.424_426del
XM_011518140.2:c.424_426del	XP_011516442.1:n.424_426del
XM_011518141.2:c.424_426del	XP_011516443.1:n.424_426del
XM_011518142.2:c.424_426del	XP_011516444.1:n.424_426del
XM_011518143.2:c.424_426del	XP_011516445.1:n.424_426del
XM_011518145.2:c.424_426del	XP_011516447.1:n.424_426del
XM_017014205.2:c.424_426del	XP_016869694.1:n.424_426del
XM_024447380.1:c.424_426del	XP_024303148.1:n.424_426del
XM_024447381.1:c.424_426del	XP_024303149.1:n.424_426del
XM_024447382.1:c.424_426del	XP_024303150.1:n.424_426del
XR_001746160.2:n.2596_2598del
XR_001746162.2:n.2977_2979del
XR_001746164.1:n.2694_2696del
XR_001746166.2:n.2813_2815del
NM_001077365.2:c.424_426del MANE Select	NP_001070833.1:n.424_426del
NM_001077366.2:c.424_426del	NP_001070834.1:n.424_426del
NM_001136113.2:c.424_426del	NP_001129585.1:n.424_426del
NM_001136114.2:c.424_426del	NP_001129586.1:n.424_426del
NM_001353193.2:c.424_426del	NP_001340122.2:n.424_426del
NM_001353194.2:c.424_426del	NP_001340123.1:n.424_426del
NM_001353195.2:c.424_426del	NP_001340124.1:n.424_426del
NM_001353196.2:c.424_426del	NP_001340125.1:n.424_426del
NM_001353197.2:c.424_426del	NP_001340126.2:n.424_426del
NM_001353198.2:c.424_426del	NP_001340127.2:n.424_426del
NM_001353199.2:c.424_426del	NP_001340128.2:n.424_426del
NM_001353200.2:c.424_426del	NP_001340129.1:n.424_426del
NM_001374689.1:c.424_426del	NP_001361618.1:n.424_426del
NM_001374690.1:c.424_426del	NP_001361619.1:n.424_426del
NM_001374691.1:c.424_426del	NP_001361620.1:n.424_426del
NM_001374692.1:c.424_426del	NP_001361621.1:n.424_426del
NM_001374693.1:c.424_426del	NP_001361622.1:n.424_426del
NM_001374695.1:c.424_426del	NP_001361624.1:n.424_426del
NM_007171.4:c.424_426del	NP_009102.4:n.424_426del
NR_148391.2:n.2460_2462del
NR_148392.2:n.2678_2680del
NR_148393.2:n.2775_2777del
NR_148394.2:n.2529_2531del
NR_148395.2:n.2927_2929del
NR_148396.2:n.2561_2563del
NR_148397.2:n.2686_2688del
NR_148398.2:n.2641_2643del
NR_148399.2:n.2991_2993del
NR_148400.2:n.2766_2768del

Linked Data

Genomic Alleles

Transcript Alleles