Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523541_131523543del , CM000671.2:g.131523541_131523543del	GRCh38
NC_000009.11:g.134398928_134398930del , CM000671.1:g.134398928_134398930del	GRCh37
NC_000009.10:g.133388749_133388751del	NCBI36
NG_008896.1:g.25640_25642del
NG_008896.2:g.25640_25642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.435_437del	ENSP00000343034.7:n.435_437del
ENST00000404875.7:n.3153_3155del
ENST00000677295.2:c.2957_2959del	ENSP00000504346.2:n.2957_2959del
ENST00000678264.2:c.2796_2798del	ENSP00000503157.2:n.2796_2798del
ENST00000682070.1:n.2923_2925del
ENST00000682639.1:c.318_320del
ENST00000682813.1:n.3010_3012del
ENST00000683231.1:c.463_465del
ENST00000683392.1:n.5205_5207del
ENST00000683900.1:n.4513_4515del
ENST00000684062.1:n.3279_3281del
ENST00000684399.1:c.428_430del
ENST00000684579.1:n.4459_4461del
ENST00000341012.12:c.435_437del	ENSP00000343034.7:n.435_437del
ENST00000372220.5:c.435_437del	ENSP00000361294.5:n.435_437del
ENST00000372228.9:c.435_437del	ENSP00000361302.3:n.435_437del
ENST00000402686.8:c.435_437del MANE Select	ENSP00000385797.4:n.435_437del
ENST00000676640.1:c.435_437del	ENSP00000503281.1:n.435_437del
ENST00000676803.1:c.435_437del	ENSP00000503093.1:n.435_437del
ENST00000676835.1:c.1828_1830del	ENSP00000502911.1:n.1828_1830del
ENST00000677295.1:c.1835_1837del	ENSP00000504346.1:n.1835_1837del
ENST00000677444.1:c.2558_2560del
ENST00000677626.1:c.435_437del	ENSP00000503552.1:n.435_437del
ENST00000677853.1:c.1621_1623del	ENSP00000503488.1:n.1621_1623del
ENST00000678546.1:c.2558_2560del	ENSP00000503062.1:n.2558_2560del
ENST00000678548.1:c.2752_2754del	ENSP00000503934.1:n.2752_2754del
ENST00000678626.1:n.2449_2451del
ENST00000678739.1:c.2779_2781del	ENSP00000503806.1:n.2779_2781del
ENST00000678833.1:c.2365_2367del	ENSP00000503893.1:n.2365_2367del
ENST00000679023.1:c.259_261del	ENSP00000503718.1:n.259_261del
ENST00000679076.1:c.2232_2234del
ENST00000679111.1:c.1369_1371del	ENSP00000504257.1:n.1369_1371del
ENST00000341012.11:c.435_437del	ENSP00000343034.7:n.435_437del
ENST00000372220.4:c.1476_1478del	ENSP00000361294.4:n.1476_1478del
ENST00000372228.7:c.435_437del	ENSP00000361302.3:n.435_437del
ENST00000402686.7:c.435_437del	ENSP00000385797.3:n.435_437del
ENST00000404875.6:c.435_437del	ENSP00000384531.2:n.435_437del
ENST00000423007.5:c.435_437del	ENSP00000404119.1:n.435_437del
ENST00000485278.5:n.3163_3165del
NM_001077365.1:c.435_437del	NP_001070833.1:n.435_437del
NM_001077366.1:c.435_437del	NP_001070834.1:n.435_437del
NM_001136113.1:c.435_437del	NP_001129585.1:n.435_437del
NM_001136114.1:c.435_437del	NP_001129586.1:n.435_437del
NM_007171.3:c.435_437del	NP_009102.3:n.435_437del
XM_005272156.1:c.435_437del	XP_005272213.1:n.435_437del
XM_005272158.1:c.435_437del	XP_005272215.1:n.435_437del
XM_005272159.1:c.435_437del	XP_005272216.1:n.435_437del
XM_005272162.1:c.435_437del	XP_005272219.1:n.435_437del
XM_006716932.1:c.435_437del	XP_006716995.1:n.435_437del
XM_011518140.1:c.435_437del	XP_011516442.1:n.435_437del
XM_011518141.1:c.435_437del	XP_011516443.1:n.435_437del
XM_011518142.1:c.435_437del	XP_011516444.1:n.435_437del
XM_011518143.1:c.435_437del	XP_011516445.1:n.435_437del
XM_011518145.1:c.435_437del	XP_011516447.1:n.435_437del
XM_011518147.1:c.435_437del	XP_011516449.1:n.435_437del
XR_929703.1:n.2679_2681del
NM_001353193.1:c.435_437del	NP_001340122.1:n.435_437del
NM_001353194.1:c.435_437del	NP_001340123.1:n.435_437del
NM_001353195.1:c.435_437del	NP_001340124.1:n.435_437del
NM_001353196.1:c.435_437del	NP_001340125.1:n.435_437del
NM_001353197.1:c.435_437del	NP_001340126.1:n.435_437del
NM_001353198.1:c.435_437del	NP_001340127.1:n.435_437del
NM_001353199.1:c.435_437del	NP_001340128.1:n.435_437del
NM_001353200.1:c.435_437del	NP_001340129.1:n.435_437del
NR_148391.1:n.2487_2489del
NR_148392.1:n.2705_2707del
NR_148393.1:n.2802_2804del
NR_148394.1:n.2556_2558del
NR_148395.1:n.2954_2956del
NR_148396.1:n.2588_2590del
NR_148397.1:n.2713_2715del
NR_148398.1:n.2668_2670del
NR_148399.1:n.3018_3020del
NR_148400.1:n.2793_2795del
XM_005272162.3:c.435_437del	XP_005272219.1:n.435_437del
XM_006716932.2:c.435_437del	XP_006716995.1:n.435_437del
XM_011518140.2:c.435_437del	XP_011516442.1:n.435_437del
XM_011518141.2:c.435_437del	XP_011516443.1:n.435_437del
XM_011518142.2:c.435_437del	XP_011516444.1:n.435_437del
XM_011518143.2:c.435_437del	XP_011516445.1:n.435_437del
XM_011518145.2:c.435_437del	XP_011516447.1:n.435_437del
XM_017014205.2:c.435_437del	XP_016869694.1:n.435_437del
XM_024447380.1:c.435_437del	XP_024303148.1:n.435_437del
XM_024447381.1:c.435_437del	XP_024303149.1:n.435_437del
XM_024447382.1:c.435_437del	XP_024303150.1:n.435_437del
XR_001746160.2:n.2607_2609del
XR_001746162.2:n.2988_2990del
XR_001746164.1:n.2705_2707del
XR_001746166.2:n.2824_2826del
NM_001077365.2:c.435_437del MANE Select	NP_001070833.1:n.435_437del
NM_001077366.2:c.435_437del	NP_001070834.1:n.435_437del
NM_001136113.2:c.435_437del	NP_001129585.1:n.435_437del
NM_001136114.2:c.435_437del	NP_001129586.1:n.435_437del
NM_001353193.2:c.435_437del	NP_001340122.2:n.435_437del
NM_001353194.2:c.435_437del	NP_001340123.1:n.435_437del
NM_001353195.2:c.435_437del	NP_001340124.1:n.435_437del
NM_001353196.2:c.435_437del	NP_001340125.1:n.435_437del
NM_001353197.2:c.435_437del	NP_001340126.2:n.435_437del
NM_001353198.2:c.435_437del	NP_001340127.2:n.435_437del
NM_001353199.2:c.435_437del	NP_001340128.2:n.435_437del
NM_001353200.2:c.435_437del	NP_001340129.1:n.435_437del
NM_001374689.1:c.435_437del	NP_001361618.1:n.435_437del
NM_001374690.1:c.435_437del	NP_001361619.1:n.435_437del
NM_001374691.1:c.435_437del	NP_001361620.1:n.435_437del
NM_001374692.1:c.435_437del	NP_001361621.1:n.435_437del
NM_001374693.1:c.435_437del	NP_001361622.1:n.435_437del
NM_001374695.1:c.435_437del	NP_001361624.1:n.435_437del
NM_007171.4:c.435_437del	NP_009102.4:n.435_437del
NR_148391.2:n.2471_2473del
NR_148392.2:n.2689_2691del
NR_148393.2:n.2786_2788del
NR_148394.2:n.2540_2542del
NR_148395.2:n.2938_2940del
NR_148396.2:n.2572_2574del
NR_148397.2:n.2697_2699del
NR_148398.2:n.2652_2654del
NR_148399.2:n.3002_3004del
NR_148400.2:n.2777_2779del

HGVS	Amino-acid Change
ENST00000341012.13:c.435_437del	ENSP00000343034.7:n.435_437del
ENST00000404875.7:n.3153_3155del
ENST00000677295.2:c.2957_2959del	ENSP00000504346.2:n.2957_2959del
ENST00000678264.2:c.2796_2798del	ENSP00000503157.2:n.2796_2798del
ENST00000682070.1:n.2923_2925del
ENST00000682639.1:c.318_320del
ENST00000682813.1:n.3010_3012del
ENST00000683231.1:c.463_465del
ENST00000683392.1:n.5205_5207del
ENST00000683900.1:n.4513_4515del
ENST00000684062.1:n.3279_3281del
ENST00000684399.1:c.428_430del
ENST00000684579.1:n.4459_4461del
ENST00000341012.12:c.435_437del	ENSP00000343034.7:n.435_437del
ENST00000372220.5:c.435_437del	ENSP00000361294.5:n.435_437del
ENST00000372228.9:c.435_437del	ENSP00000361302.3:n.435_437del
ENST00000402686.8:c.435_437del MANE Select	ENSP00000385797.4:n.435_437del
ENST00000676640.1:c.435_437del	ENSP00000503281.1:n.435_437del
ENST00000676803.1:c.435_437del	ENSP00000503093.1:n.435_437del
ENST00000676835.1:c.1828_1830del	ENSP00000502911.1:n.1828_1830del
ENST00000677295.1:c.1835_1837del	ENSP00000504346.1:n.1835_1837del
ENST00000677444.1:c.2558_2560del
ENST00000677626.1:c.435_437del	ENSP00000503552.1:n.435_437del
ENST00000677853.1:c.1621_1623del	ENSP00000503488.1:n.1621_1623del
ENST00000678546.1:c.2558_2560del	ENSP00000503062.1:n.2558_2560del
ENST00000678548.1:c.2752_2754del	ENSP00000503934.1:n.2752_2754del
ENST00000678626.1:n.2449_2451del
ENST00000678739.1:c.2779_2781del	ENSP00000503806.1:n.2779_2781del
ENST00000678833.1:c.2365_2367del	ENSP00000503893.1:n.2365_2367del
ENST00000679023.1:c.259_261del	ENSP00000503718.1:n.259_261del
ENST00000679076.1:c.2232_2234del
ENST00000679111.1:c.1369_1371del	ENSP00000504257.1:n.1369_1371del
ENST00000341012.11:c.435_437del	ENSP00000343034.7:n.435_437del
ENST00000372220.4:c.1476_1478del	ENSP00000361294.4:n.1476_1478del
ENST00000372228.7:c.435_437del	ENSP00000361302.3:n.435_437del
ENST00000402686.7:c.435_437del	ENSP00000385797.3:n.435_437del
ENST00000404875.6:c.435_437del	ENSP00000384531.2:n.435_437del
ENST00000423007.5:c.435_437del	ENSP00000404119.1:n.435_437del
ENST00000485278.5:n.3163_3165del
NM_001077365.1:c.435_437del	NP_001070833.1:n.435_437del
NM_001077366.1:c.435_437del	NP_001070834.1:n.435_437del
NM_001136113.1:c.435_437del	NP_001129585.1:n.435_437del
NM_001136114.1:c.435_437del	NP_001129586.1:n.435_437del
NM_007171.3:c.435_437del	NP_009102.3:n.435_437del
XM_005272156.1:c.435_437del	XP_005272213.1:n.435_437del
XM_005272158.1:c.435_437del	XP_005272215.1:n.435_437del
XM_005272159.1:c.435_437del	XP_005272216.1:n.435_437del
XM_005272162.1:c.435_437del	XP_005272219.1:n.435_437del
XM_006716932.1:c.435_437del	XP_006716995.1:n.435_437del
XM_011518140.1:c.435_437del	XP_011516442.1:n.435_437del
XM_011518141.1:c.435_437del	XP_011516443.1:n.435_437del
XM_011518142.1:c.435_437del	XP_011516444.1:n.435_437del
XM_011518143.1:c.435_437del	XP_011516445.1:n.435_437del
XM_011518145.1:c.435_437del	XP_011516447.1:n.435_437del
XM_011518147.1:c.435_437del	XP_011516449.1:n.435_437del
XR_929703.1:n.2679_2681del
NM_001353193.1:c.435_437del	NP_001340122.1:n.435_437del
NM_001353194.1:c.435_437del	NP_001340123.1:n.435_437del
NM_001353195.1:c.435_437del	NP_001340124.1:n.435_437del
NM_001353196.1:c.435_437del	NP_001340125.1:n.435_437del
NM_001353197.1:c.435_437del	NP_001340126.1:n.435_437del
NM_001353198.1:c.435_437del	NP_001340127.1:n.435_437del
NM_001353199.1:c.435_437del	NP_001340128.1:n.435_437del
NM_001353200.1:c.435_437del	NP_001340129.1:n.435_437del
NR_148391.1:n.2487_2489del
NR_148392.1:n.2705_2707del
NR_148393.1:n.2802_2804del
NR_148394.1:n.2556_2558del
NR_148395.1:n.2954_2956del
NR_148396.1:n.2588_2590del
NR_148397.1:n.2713_2715del
NR_148398.1:n.2668_2670del
NR_148399.1:n.3018_3020del
NR_148400.1:n.2793_2795del
XM_005272162.3:c.435_437del	XP_005272219.1:n.435_437del
XM_006716932.2:c.435_437del	XP_006716995.1:n.435_437del
XM_011518140.2:c.435_437del	XP_011516442.1:n.435_437del
XM_011518141.2:c.435_437del	XP_011516443.1:n.435_437del
XM_011518142.2:c.435_437del	XP_011516444.1:n.435_437del
XM_011518143.2:c.435_437del	XP_011516445.1:n.435_437del
XM_011518145.2:c.435_437del	XP_011516447.1:n.435_437del
XM_017014205.2:c.435_437del	XP_016869694.1:n.435_437del
XM_024447380.1:c.435_437del	XP_024303148.1:n.435_437del
XM_024447381.1:c.435_437del	XP_024303149.1:n.435_437del
XM_024447382.1:c.435_437del	XP_024303150.1:n.435_437del
XR_001746160.2:n.2607_2609del
XR_001746162.2:n.2988_2990del
XR_001746164.1:n.2705_2707del
XR_001746166.2:n.2824_2826del
NM_001077365.2:c.435_437del MANE Select	NP_001070833.1:n.435_437del
NM_001077366.2:c.435_437del	NP_001070834.1:n.435_437del
NM_001136113.2:c.435_437del	NP_001129585.1:n.435_437del
NM_001136114.2:c.435_437del	NP_001129586.1:n.435_437del
NM_001353193.2:c.435_437del	NP_001340122.2:n.435_437del
NM_001353194.2:c.435_437del	NP_001340123.1:n.435_437del
NM_001353195.2:c.435_437del	NP_001340124.1:n.435_437del
NM_001353196.2:c.435_437del	NP_001340125.1:n.435_437del
NM_001353197.2:c.435_437del	NP_001340126.2:n.435_437del
NM_001353198.2:c.435_437del	NP_001340127.2:n.435_437del
NM_001353199.2:c.435_437del	NP_001340128.2:n.435_437del
NM_001353200.2:c.435_437del	NP_001340129.1:n.435_437del
NM_001374689.1:c.435_437del	NP_001361618.1:n.435_437del
NM_001374690.1:c.435_437del	NP_001361619.1:n.435_437del
NM_001374691.1:c.435_437del	NP_001361620.1:n.435_437del
NM_001374692.1:c.435_437del	NP_001361621.1:n.435_437del
NM_001374693.1:c.435_437del	NP_001361622.1:n.435_437del
NM_001374695.1:c.435_437del	NP_001361624.1:n.435_437del
NM_007171.4:c.435_437del	NP_009102.4:n.435_437del
NR_148391.2:n.2471_2473del
NR_148392.2:n.2689_2691del
NR_148393.2:n.2786_2788del
NR_148394.2:n.2540_2542del
NR_148395.2:n.2938_2940del
NR_148396.2:n.2572_2574del
NR_148397.2:n.2697_2699del
NR_148398.2:n.2652_2654del
NR_148399.2:n.3002_3004del
NR_148400.2:n.2777_2779del