Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957984_87957986del , CM000672.2:g.87957984_87957986del	GRCh38
NC_000010.10:g.89717741_89717743del , CM000672.1:g.89717741_89717743del	GRCh37
NC_000010.9:g.89707721_89707723del	NCBI36
NG_007466.2:g.99546_99548del , LRG_311:g.99546_99548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.766_768del	ENSP00000514759.2:p.Glu256del
ENST00000710265.1:c.766_768del	ENSP00000518161.1:p.Glu256del
ENST00000472832.3:c.766_768del	ENSP00000483066.2:p.Glu256del
ENST00000688158.2:n.1501_1503del
ENST00000688922.2:c.596_598del	ENSP00000508742.2:n.596_598del
ENST00000700021.1:c.721_723del	ENSP00000514757.1:p.Glu241del
ENST00000700022.1:c.105_107del	ENSP00000514758.1:n.105_107del
ENST00000700023.1:n.1924_1926del
ENST00000700024.1:n.2158_2160del
ENST00000700025.1:n.1535_1537del
ENST00000700026.1:n.403_405del
ENST00000700029.1:c.600_602del
ENST00000706954.1:c.766_768del	ENSP00000516674.1:p.Glu256del
ENST00000706955.1:c.801_803del	ENSP00000516675.1:n.801_803del
ENST00000686459.1:c.352_354del	ENSP00000508909.1:n.352_354del
ENST00000688158.1:c.877_879del	ENSP00000509254.1:n.877_879del
ENST00000688308.1:c.766_768del	ENSP00000508752.1:p.Glu256del
ENST00000688922.1:c.687_689del
ENST00000693560.1:c.1285_1287del	ENSP00000509861.1:p.Glu429del
ENST00000371953.8:c.766_768del MANE Select	ENSP00000361021.3:p.Glu256del
ENST00000371953.7:c.766_768del	ENSP00000361021.3:p.Glu256del
ENST00000472832.2:c.193_195del	ENSP00000483066.1:p.Glu65del
NM_000314.5:c.766_768del	NP_000305.3:p.Glu256del
NM_000314.6:c.766_768del	NP_000305.3:p.Glu256del
NM_001304717.2:c.1285_1287del	NP_001291646.2:p.Glu429del
NM_001304718.1:c.175_177del	NP_001291647.1:p.Glu59del
XM_006717926.2:c.721_723del	XP_006717989.1:p.Glu241del
XM_011539981.1:c.766_768del	XP_011538283.1:p.Glu256del
XM_011539982.1:c.670_672del	XP_011538284.1:p.Glu224del
XR_945791.1:n.1336_1338del
NM_000314.7:c.766_768del	NP_000305.3:p.Glu256del
NM_001304717.5:c.1285_1287del	NP_001291646.4:p.Glu429del
NM_001304718.2:c.175_177del	NP_001291647.1:p.Glu59del
NM_000314.8:c.766_768del MANE Select	NP_000305.3:p.Glu256del