Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958016_87958018del , CM000672.2:g.87958016_87958018del	GRCh38
NC_000010.10:g.89717773_89717775del , CM000672.1:g.89717773_89717775del	GRCh37
NC_000010.9:g.89707753_89707755del	NCBI36
NG_007466.2:g.99578_99580del , LRG_311:g.99578_99580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.798_800del	ENSP00000514759.2:p.Lys267del
ENST00000710265.1:c.798_800del	ENSP00000518161.1:p.Lys267del
ENST00000472832.3:c.798_800del	ENSP00000483066.2:p.Lys267del
ENST00000688158.2:n.1533_1535del
ENST00000688922.2:c.628_630del	ENSP00000508742.2:n.628_630del
ENST00000700021.1:c.753_755del	ENSP00000514757.1:p.Lys252del
ENST00000700022.1:c.137_139del	ENSP00000514758.1:n.137_139del
ENST00000700023.1:n.1956_1958del
ENST00000700024.1:n.2190_2192del
ENST00000700025.1:n.1567_1569del
ENST00000700026.1:n.435_437del
ENST00000700029.1:c.632_634del
ENST00000706954.1:c.798_800del	ENSP00000516674.1:p.Lys267del
ENST00000706955.1:c.833_835del	ENSP00000516675.1:n.833_835del
ENST00000686459.1:c.384_386del	ENSP00000508909.1:n.384_386del
ENST00000688158.1:c.909_911del	ENSP00000509254.1:n.909_911del
ENST00000688308.1:c.798_800del	ENSP00000508752.1:p.Lys267del
ENST00000688922.1:c.719_721del
ENST00000693560.1:c.1317_1319del	ENSP00000509861.1:p.Lys440del
ENST00000371953.8:c.798_800del MANE Select	ENSP00000361021.3:p.Lys267del
ENST00000371953.7:c.798_800del	ENSP00000361021.3:p.Lys267del
ENST00000472832.2:c.225_227del	ENSP00000483066.1:p.Lys76del
NM_000314.5:c.798_800del	NP_000305.3:p.Lys267del
NM_000314.6:c.798_800del	NP_000305.3:p.Lys267del
NM_001304717.2:c.1317_1319del	NP_001291646.2:p.Lys440del
NM_001304718.1:c.207_209del	NP_001291647.1:p.Lys70del
XM_006717926.2:c.753_755del	XP_006717989.1:p.Lys252del
XM_011539981.1:c.798_800del	XP_011538283.1:p.Lys267del
XM_011539982.1:c.702_704del	XP_011538284.1:p.Lys235del
XR_945791.1:n.1368_1370del
NM_000314.7:c.798_800del	NP_000305.3:p.Lys267del
NM_001304717.5:c.1317_1319del	NP_001291646.4:p.Lys440del
NM_001304718.2:c.207_209del	NP_001291647.1:p.Lys70del
NM_000314.8:c.798_800del MANE Select	NP_000305.3:p.Lys267del