Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957978_87957980del , CM000672.2:g.87957978_87957980del	GRCh38
NC_000010.10:g.89717735_89717737del , CM000672.1:g.89717735_89717737del	GRCh37
NC_000010.9:g.89707715_89707717del	NCBI36
NG_007466.2:g.99540_99542del , LRG_311:g.99540_99542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.760_762del	ENSP00000514759.2:p.Lys254del
ENST00000710265.1:c.760_762del	ENSP00000518161.1:p.Lys254del
ENST00000472832.3:c.760_762del	ENSP00000483066.2:p.Lys254del
ENST00000688158.2:n.1495_1497del
ENST00000688922.2:c.590_592del	ENSP00000508742.2:n.590_592del
ENST00000700021.1:c.715_717del	ENSP00000514757.1:p.Lys239del
ENST00000700022.1:c.99_101del	ENSP00000514758.1:n.99_101del
ENST00000700023.1:n.1918_1920del
ENST00000700024.1:n.2152_2154del
ENST00000700025.1:n.1529_1531del
ENST00000700026.1:n.397_399del
ENST00000700029.1:c.594_596del
ENST00000706954.1:c.760_762del	ENSP00000516674.1:p.Lys254del
ENST00000706955.1:c.795_797del	ENSP00000516675.1:n.795_797del
ENST00000686459.1:c.346_348del	ENSP00000508909.1:n.346_348del
ENST00000688158.1:c.871_873del	ENSP00000509254.1:n.871_873del
ENST00000688308.1:c.760_762del	ENSP00000508752.1:p.Lys254del
ENST00000688922.1:c.681_683del
ENST00000693560.1:c.1279_1281del	ENSP00000509861.1:p.Lys427del
ENST00000371953.8:c.760_762del MANE Select	ENSP00000361021.3:p.Lys254del
ENST00000371953.7:c.760_762del	ENSP00000361021.3:p.Lys254del
ENST00000472832.2:c.187_189del	ENSP00000483066.1:p.Lys63del
NM_000314.5:c.760_762del	NP_000305.3:p.Lys254del
NM_000314.6:c.760_762del	NP_000305.3:p.Lys254del
NM_001304717.2:c.1279_1281del	NP_001291646.2:p.Lys427del
NM_001304718.1:c.169_171del	NP_001291647.1:p.Lys57del
XM_006717926.2:c.715_717del	XP_006717989.1:p.Lys239del
XM_011539981.1:c.760_762del	XP_011538283.1:p.Lys254del
XM_011539982.1:c.664_666del	XP_011538284.1:p.Lys222del
XR_945791.1:n.1330_1332del
NM_000314.7:c.760_762del	NP_000305.3:p.Lys254del
NM_001304717.5:c.1279_1281del	NP_001291646.4:p.Lys427del
NM_001304718.2:c.169_171del	NP_001291647.1:p.Lys57del
NM_000314.8:c.760_762del MANE Select	NP_000305.3:p.Lys254del