Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523537_131523538del , CM000671.2:g.131523537_131523538del	GRCh38
NC_000009.11:g.134398924_134398925del , CM000671.1:g.134398924_134398925del	GRCh37
NC_000009.10:g.133388745_133388746del	NCBI36
NG_008896.1:g.25636_25637del
NG_008896.2:g.25636_25637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.431_432del	ENSP00000343034.7:n.431_432del
ENST00000404875.7:n.3149_3150del
ENST00000677295.2:c.2953_2954del	ENSP00000504346.2:n.2953_2954del
ENST00000678264.2:c.2792_2793del	ENSP00000503157.2:n.2792_2793del
ENST00000682070.1:n.2919_2920del
ENST00000682639.1:c.314_315del
ENST00000682813.1:n.3006_3007del
ENST00000683231.1:c.459_460del
ENST00000683392.1:n.5201_5202del
ENST00000683900.1:n.4509_4510del
ENST00000684062.1:n.3275_3276del
ENST00000684399.1:c.424_425del
ENST00000684579.1:n.4455_4456del
ENST00000341012.12:c.431_432del	ENSP00000343034.7:n.431_432del
ENST00000372220.5:c.431_432del	ENSP00000361294.5:n.431_432del
ENST00000372228.9:c.431_432del	ENSP00000361302.3:n.431_432del
ENST00000402686.8:c.431_432del MANE Select	ENSP00000385797.4:n.431_432del
ENST00000676640.1:c.431_432del	ENSP00000503281.1:n.431_432del
ENST00000676803.1:c.431_432del	ENSP00000503093.1:n.431_432del
ENST00000676835.1:c.1824_1825del	ENSP00000502911.1:n.1824_1825del
ENST00000677295.1:c.1831_1832del	ENSP00000504346.1:n.1831_1832del
ENST00000677444.1:c.2554_2555del
ENST00000677626.1:c.431_432del	ENSP00000503552.1:n.431_432del
ENST00000677853.1:c.1617_1618del	ENSP00000503488.1:n.1617_1618del
ENST00000678546.1:c.2554_2555del	ENSP00000503062.1:n.2554_2555del
ENST00000678548.1:c.2748_2749del	ENSP00000503934.1:n.2748_2749del
ENST00000678626.1:n.2445_2446del
ENST00000678739.1:c.2775_2776del	ENSP00000503806.1:n.2775_2776del
ENST00000678833.1:c.2361_2362del	ENSP00000503893.1:n.2361_2362del
ENST00000679023.1:c.255_256del	ENSP00000503718.1:n.255_256del
ENST00000679076.1:c.2228_2229del
ENST00000679111.1:c.1365_1366del	ENSP00000504257.1:n.1365_1366del
ENST00000341012.11:c.431_432del	ENSP00000343034.7:n.431_432del
ENST00000372220.4:c.1472_1473del	ENSP00000361294.4:n.1472_1473del
ENST00000372228.7:c.431_432del	ENSP00000361302.3:n.431_432del
ENST00000402686.7:c.431_432del	ENSP00000385797.3:n.431_432del
ENST00000404875.6:c.431_432del	ENSP00000384531.2:n.431_432del
ENST00000423007.5:c.431_432del	ENSP00000404119.1:n.431_432del
ENST00000485278.5:n.3159_3160del
NM_001077365.1:c.431_432del	NP_001070833.1:n.431_432del
NM_001077366.1:c.431_432del	NP_001070834.1:n.431_432del
NM_001136113.1:c.431_432del	NP_001129585.1:n.431_432del
NM_001136114.1:c.431_432del	NP_001129586.1:n.431_432del
NM_007171.3:c.431_432del	NP_009102.3:n.431_432del
XM_005272156.1:c.431_432del	XP_005272213.1:n.431_432del
XM_005272158.1:c.431_432del	XP_005272215.1:n.431_432del
XM_005272159.1:c.431_432del	XP_005272216.1:n.431_432del
XM_005272162.1:c.431_432del	XP_005272219.1:n.431_432del
XM_006716932.1:c.431_432del	XP_006716995.1:n.431_432del
XM_011518140.1:c.431_432del	XP_011516442.1:n.431_432del
XM_011518141.1:c.431_432del	XP_011516443.1:n.431_432del
XM_011518142.1:c.431_432del	XP_011516444.1:n.431_432del
XM_011518143.1:c.431_432del	XP_011516445.1:n.431_432del
XM_011518145.1:c.431_432del	XP_011516447.1:n.431_432del
XM_011518147.1:c.431_432del	XP_011516449.1:n.431_432del
XR_929703.1:n.2675_2676del
NM_001353193.1:c.431_432del	NP_001340122.1:n.431_432del
NM_001353194.1:c.431_432del	NP_001340123.1:n.431_432del
NM_001353195.1:c.431_432del	NP_001340124.1:n.431_432del
NM_001353196.1:c.431_432del	NP_001340125.1:n.431_432del
NM_001353197.1:c.431_432del	NP_001340126.1:n.431_432del
NM_001353198.1:c.431_432del	NP_001340127.1:n.431_432del
NM_001353199.1:c.431_432del	NP_001340128.1:n.431_432del
NM_001353200.1:c.431_432del	NP_001340129.1:n.431_432del
NR_148391.1:n.2483_2484del
NR_148392.1:n.2701_2702del
NR_148393.1:n.2798_2799del
NR_148394.1:n.2552_2553del
NR_148395.1:n.2950_2951del
NR_148396.1:n.2584_2585del
NR_148397.1:n.2709_2710del
NR_148398.1:n.2664_2665del
NR_148399.1:n.3014_3015del
NR_148400.1:n.2789_2790del
XM_005272162.3:c.431_432del	XP_005272219.1:n.431_432del
XM_006716932.2:c.431_432del	XP_006716995.1:n.431_432del
XM_011518140.2:c.431_432del	XP_011516442.1:n.431_432del
XM_011518141.2:c.431_432del	XP_011516443.1:n.431_432del
XM_011518142.2:c.431_432del	XP_011516444.1:n.431_432del
XM_011518143.2:c.431_432del	XP_011516445.1:n.431_432del
XM_011518145.2:c.431_432del	XP_011516447.1:n.431_432del
XM_017014205.2:c.431_432del	XP_016869694.1:n.431_432del
XM_024447380.1:c.431_432del	XP_024303148.1:n.431_432del
XM_024447381.1:c.431_432del	XP_024303149.1:n.431_432del
XM_024447382.1:c.431_432del	XP_024303150.1:n.431_432del
XR_001746160.2:n.2603_2604del
XR_001746162.2:n.2984_2985del
XR_001746164.1:n.2701_2702del
XR_001746166.2:n.2820_2821del
NM_001077365.2:c.431_432del MANE Select	NP_001070833.1:n.431_432del
NM_001077366.2:c.431_432del	NP_001070834.1:n.431_432del
NM_001136113.2:c.431_432del	NP_001129585.1:n.431_432del
NM_001136114.2:c.431_432del	NP_001129586.1:n.431_432del
NM_001353193.2:c.431_432del	NP_001340122.2:n.431_432del
NM_001353194.2:c.431_432del	NP_001340123.1:n.431_432del
NM_001353195.2:c.431_432del	NP_001340124.1:n.431_432del
NM_001353196.2:c.431_432del	NP_001340125.1:n.431_432del
NM_001353197.2:c.431_432del	NP_001340126.2:n.431_432del
NM_001353198.2:c.431_432del	NP_001340127.2:n.431_432del
NM_001353199.2:c.431_432del	NP_001340128.2:n.431_432del
NM_001353200.2:c.431_432del	NP_001340129.1:n.431_432del
NM_001374689.1:c.431_432del	NP_001361618.1:n.431_432del
NM_001374690.1:c.431_432del	NP_001361619.1:n.431_432del
NM_001374691.1:c.431_432del	NP_001361620.1:n.431_432del
NM_001374692.1:c.431_432del	NP_001361621.1:n.431_432del
NM_001374693.1:c.431_432del	NP_001361622.1:n.431_432del
NM_001374695.1:c.431_432del	NP_001361624.1:n.431_432del
NM_007171.4:c.431_432del	NP_009102.4:n.431_432del
NR_148391.2:n.2467_2468del
NR_148392.2:n.2685_2686del
NR_148393.2:n.2782_2783del
NR_148394.2:n.2536_2537del
NR_148395.2:n.2934_2935del
NR_148396.2:n.2568_2569del
NR_148397.2:n.2693_2694del
NR_148398.2:n.2648_2649del
NR_148399.2:n.2998_2999del
NR_148400.2:n.2773_2774del

HGVS	Amino-acid Change
ENST00000341012.13:c.431_432del	ENSP00000343034.7:n.431_432del
ENST00000404875.7:n.3149_3150del
ENST00000677295.2:c.2953_2954del	ENSP00000504346.2:n.2953_2954del
ENST00000678264.2:c.2792_2793del	ENSP00000503157.2:n.2792_2793del
ENST00000682070.1:n.2919_2920del
ENST00000682639.1:c.314_315del
ENST00000682813.1:n.3006_3007del
ENST00000683231.1:c.459_460del
ENST00000683392.1:n.5201_5202del
ENST00000683900.1:n.4509_4510del
ENST00000684062.1:n.3275_3276del
ENST00000684399.1:c.424_425del
ENST00000684579.1:n.4455_4456del
ENST00000341012.12:c.431_432del	ENSP00000343034.7:n.431_432del
ENST00000372220.5:c.431_432del	ENSP00000361294.5:n.431_432del
ENST00000372228.9:c.431_432del	ENSP00000361302.3:n.431_432del
ENST00000402686.8:c.431_432del MANE Select	ENSP00000385797.4:n.431_432del
ENST00000676640.1:c.431_432del	ENSP00000503281.1:n.431_432del
ENST00000676803.1:c.431_432del	ENSP00000503093.1:n.431_432del
ENST00000676835.1:c.1824_1825del	ENSP00000502911.1:n.1824_1825del
ENST00000677295.1:c.1831_1832del	ENSP00000504346.1:n.1831_1832del
ENST00000677444.1:c.2554_2555del
ENST00000677626.1:c.431_432del	ENSP00000503552.1:n.431_432del
ENST00000677853.1:c.1617_1618del	ENSP00000503488.1:n.1617_1618del
ENST00000678546.1:c.2554_2555del	ENSP00000503062.1:n.2554_2555del
ENST00000678548.1:c.2748_2749del	ENSP00000503934.1:n.2748_2749del
ENST00000678626.1:n.2445_2446del
ENST00000678739.1:c.2775_2776del	ENSP00000503806.1:n.2775_2776del
ENST00000678833.1:c.2361_2362del	ENSP00000503893.1:n.2361_2362del
ENST00000679023.1:c.255_256del	ENSP00000503718.1:n.255_256del
ENST00000679076.1:c.2228_2229del
ENST00000679111.1:c.1365_1366del	ENSP00000504257.1:n.1365_1366del
ENST00000341012.11:c.431_432del	ENSP00000343034.7:n.431_432del
ENST00000372220.4:c.1472_1473del	ENSP00000361294.4:n.1472_1473del
ENST00000372228.7:c.431_432del	ENSP00000361302.3:n.431_432del
ENST00000402686.7:c.431_432del	ENSP00000385797.3:n.431_432del
ENST00000404875.6:c.431_432del	ENSP00000384531.2:n.431_432del
ENST00000423007.5:c.431_432del	ENSP00000404119.1:n.431_432del
ENST00000485278.5:n.3159_3160del
NM_001077365.1:c.431_432del	NP_001070833.1:n.431_432del
NM_001077366.1:c.431_432del	NP_001070834.1:n.431_432del
NM_001136113.1:c.431_432del	NP_001129585.1:n.431_432del
NM_001136114.1:c.431_432del	NP_001129586.1:n.431_432del
NM_007171.3:c.431_432del	NP_009102.3:n.431_432del
XM_005272156.1:c.431_432del	XP_005272213.1:n.431_432del
XM_005272158.1:c.431_432del	XP_005272215.1:n.431_432del
XM_005272159.1:c.431_432del	XP_005272216.1:n.431_432del
XM_005272162.1:c.431_432del	XP_005272219.1:n.431_432del
XM_006716932.1:c.431_432del	XP_006716995.1:n.431_432del
XM_011518140.1:c.431_432del	XP_011516442.1:n.431_432del
XM_011518141.1:c.431_432del	XP_011516443.1:n.431_432del
XM_011518142.1:c.431_432del	XP_011516444.1:n.431_432del
XM_011518143.1:c.431_432del	XP_011516445.1:n.431_432del
XM_011518145.1:c.431_432del	XP_011516447.1:n.431_432del
XM_011518147.1:c.431_432del	XP_011516449.1:n.431_432del
XR_929703.1:n.2675_2676del
NM_001353193.1:c.431_432del	NP_001340122.1:n.431_432del
NM_001353194.1:c.431_432del	NP_001340123.1:n.431_432del
NM_001353195.1:c.431_432del	NP_001340124.1:n.431_432del
NM_001353196.1:c.431_432del	NP_001340125.1:n.431_432del
NM_001353197.1:c.431_432del	NP_001340126.1:n.431_432del
NM_001353198.1:c.431_432del	NP_001340127.1:n.431_432del
NM_001353199.1:c.431_432del	NP_001340128.1:n.431_432del
NM_001353200.1:c.431_432del	NP_001340129.1:n.431_432del
NR_148391.1:n.2483_2484del
NR_148392.1:n.2701_2702del
NR_148393.1:n.2798_2799del
NR_148394.1:n.2552_2553del
NR_148395.1:n.2950_2951del
NR_148396.1:n.2584_2585del
NR_148397.1:n.2709_2710del
NR_148398.1:n.2664_2665del
NR_148399.1:n.3014_3015del
NR_148400.1:n.2789_2790del
XM_005272162.3:c.431_432del	XP_005272219.1:n.431_432del
XM_006716932.2:c.431_432del	XP_006716995.1:n.431_432del
XM_011518140.2:c.431_432del	XP_011516442.1:n.431_432del
XM_011518141.2:c.431_432del	XP_011516443.1:n.431_432del
XM_011518142.2:c.431_432del	XP_011516444.1:n.431_432del
XM_011518143.2:c.431_432del	XP_011516445.1:n.431_432del
XM_011518145.2:c.431_432del	XP_011516447.1:n.431_432del
XM_017014205.2:c.431_432del	XP_016869694.1:n.431_432del
XM_024447380.1:c.431_432del	XP_024303148.1:n.431_432del
XM_024447381.1:c.431_432del	XP_024303149.1:n.431_432del
XM_024447382.1:c.431_432del	XP_024303150.1:n.431_432del
XR_001746160.2:n.2603_2604del
XR_001746162.2:n.2984_2985del
XR_001746164.1:n.2701_2702del
XR_001746166.2:n.2820_2821del
NM_001077365.2:c.431_432del MANE Select	NP_001070833.1:n.431_432del
NM_001077366.2:c.431_432del	NP_001070834.1:n.431_432del
NM_001136113.2:c.431_432del	NP_001129585.1:n.431_432del
NM_001136114.2:c.431_432del	NP_001129586.1:n.431_432del
NM_001353193.2:c.431_432del	NP_001340122.2:n.431_432del
NM_001353194.2:c.431_432del	NP_001340123.1:n.431_432del
NM_001353195.2:c.431_432del	NP_001340124.1:n.431_432del
NM_001353196.2:c.431_432del	NP_001340125.1:n.431_432del
NM_001353197.2:c.431_432del	NP_001340126.2:n.431_432del
NM_001353198.2:c.431_432del	NP_001340127.2:n.431_432del
NM_001353199.2:c.431_432del	NP_001340128.2:n.431_432del
NM_001353200.2:c.431_432del	NP_001340129.1:n.431_432del
NM_001374689.1:c.431_432del	NP_001361618.1:n.431_432del
NM_001374690.1:c.431_432del	NP_001361619.1:n.431_432del
NM_001374691.1:c.431_432del	NP_001361620.1:n.431_432del
NM_001374692.1:c.431_432del	NP_001361621.1:n.431_432del
NM_001374693.1:c.431_432del	NP_001361622.1:n.431_432del
NM_001374695.1:c.431_432del	NP_001361624.1:n.431_432del
NM_007171.4:c.431_432del	NP_009102.4:n.431_432del
NR_148391.2:n.2467_2468del
NR_148392.2:n.2685_2686del
NR_148393.2:n.2782_2783del
NR_148394.2:n.2536_2537del
NR_148395.2:n.2934_2935del
NR_148396.2:n.2568_2569del
NR_148397.2:n.2693_2694del
NR_148398.2:n.2648_2649del
NR_148399.2:n.2998_2999del
NR_148400.2:n.2773_2774del

Linked Data

Genomic Alleles

Transcript Alleles