Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957972_87957974del , CM000672.2:g.87957972_87957974del	GRCh38
NC_000010.10:g.89717729_89717731del , CM000672.1:g.89717729_89717731del	GRCh37
NC_000010.9:g.89707709_89707711del	NCBI36
NG_007466.2:g.99534_99536del , LRG_311:g.99534_99536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.754_756del	ENSP00000514759.2:p.Asp252del
ENST00000710265.1:c.754_756del	ENSP00000518161.1:p.Asp252del
ENST00000472832.3:c.754_756del	ENSP00000483066.2:p.Asp252del
ENST00000688158.2:n.1489_1491del
ENST00000688922.2:c.584_586del	ENSP00000508742.2:n.584_586del
ENST00000700021.1:c.709_711del	ENSP00000514757.1:p.Asp237del
ENST00000700022.1:c.93_95del	ENSP00000514758.1:n.93_95del
ENST00000700023.1:n.1912_1914del
ENST00000700024.1:n.2146_2148del
ENST00000700025.1:n.1523_1525del
ENST00000700026.1:n.391_393del
ENST00000700029.1:c.588_590del
ENST00000706954.1:c.754_756del	ENSP00000516674.1:p.Asp252del
ENST00000706955.1:c.789_791del	ENSP00000516675.1:n.789_791del
ENST00000686459.1:c.340_342del	ENSP00000508909.1:n.340_342del
ENST00000688158.1:c.865_867del	ENSP00000509254.1:n.865_867del
ENST00000688308.1:c.754_756del	ENSP00000508752.1:p.Asp252del
ENST00000688922.1:c.675_677del
ENST00000693560.1:c.1273_1275del	ENSP00000509861.1:p.Asp425del
ENST00000371953.8:c.754_756del MANE Select	ENSP00000361021.3:p.Asp252del
ENST00000371953.7:c.754_756del	ENSP00000361021.3:p.Asp252del
ENST00000472832.2:c.181_183del	ENSP00000483066.1:p.Asp61del
NM_000314.5:c.754_756del	NP_000305.3:p.Asp252del
NM_000314.6:c.754_756del	NP_000305.3:p.Asp252del
NM_001304717.2:c.1273_1275del	NP_001291646.2:p.Asp425del
NM_001304718.1:c.163_165del	NP_001291647.1:p.Asp55del
XM_006717926.2:c.709_711del	XP_006717989.1:p.Asp237del
XM_011539981.1:c.754_756del	XP_011538283.1:p.Asp252del
XM_011539982.1:c.658_660del	XP_011538284.1:p.Asp220del
XR_945791.1:n.1324_1326del
NM_000314.7:c.754_756del	NP_000305.3:p.Asp252del
NM_001304717.5:c.1273_1275del	NP_001291646.4:p.Asp425del
NM_001304718.2:c.163_165del	NP_001291647.1:p.Asp55del
NM_000314.8:c.754_756del MANE Select	NP_000305.3:p.Asp252del