Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957984_87957986delinsAGA , CM000672.2:g.87957984_87957986delinsAGA	GRCh38
NC_000010.10:g.89717741_89717743delinsAGA , CM000672.1:g.89717741_89717743delinsAGA	GRCh37
NC_000010.9:g.89707721_89707723delinsAGA	NCBI36
NG_007466.2:g.99546_99548delinsAGA , LRG_311:g.99546_99548delinsAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.766_768delinsAGA	ENSP00000514759.2:p.Glu256Arg
ENST00000710265.1:c.766_768delinsAGA	ENSP00000518161.1:p.Glu256Arg
ENST00000472832.3:c.766_768delinsAGA	ENSP00000483066.2:p.Glu256Arg
ENST00000688158.2:n.1501_1503delinsAGA
ENST00000688922.2:c.596_598delinsAGA	ENSP00000508742.2:n.596_598delinsAGA
ENST00000700021.1:c.721_723delinsAGA	ENSP00000514757.1:p.Glu241Arg
ENST00000700022.1:c.105_107delinsAGA	ENSP00000514758.1:n.105_107delinsAGA
ENST00000700023.1:n.1924_1926delinsAGA
ENST00000700024.1:n.2158_2160delinsAGA
ENST00000700025.1:n.1535_1537delinsAGA
ENST00000700026.1:n.403_405delinsAGA
ENST00000700029.1:c.600_602delinsAGA
ENST00000706954.1:c.766_768delinsAGA	ENSP00000516674.1:p.Glu256Arg
ENST00000706955.1:c.801_803delinsAGA	ENSP00000516675.1:n.801_803delinsAGA
ENST00000686459.1:c.352_354delinsAGA	ENSP00000508909.1:n.352_354delinsAGA
ENST00000688158.1:c.877_879delinsAGA	ENSP00000509254.1:n.877_879delinsAGA
ENST00000688308.1:c.766_768delinsAGA	ENSP00000508752.1:p.Glu256Arg
ENST00000688922.1:c.687_689delinsAGA
ENST00000693560.1:c.1285_1287delinsAGA	ENSP00000509861.1:p.Glu429Arg
ENST00000371953.8:c.766_768delinsAGA MANE Select	ENSP00000361021.3:p.Glu256Arg
ENST00000371953.7:c.766_768delinsAGA	ENSP00000361021.3:p.Glu256Arg
ENST00000472832.2:c.193_195delinsAGA	ENSP00000483066.1:p.Glu65Arg
NM_000314.5:c.766_768delinsAGA	NP_000305.3:p.Glu256Arg
NM_000314.6:c.766_768delinsAGA	NP_000305.3:p.Glu256Arg
NM_001304717.2:c.1285_1287delinsAGA	NP_001291646.2:p.Glu429Arg
NM_001304718.1:c.175_177delinsAGA	NP_001291647.1:p.Glu59Arg
XM_006717926.2:c.721_723delinsAGA	XP_006717989.1:p.Glu241Arg
XM_011539981.1:c.766_768delinsAGA	XP_011538283.1:p.Glu256Arg
XM_011539982.1:c.670_672delinsAGA	XP_011538284.1:p.Glu224Arg
XR_945791.1:n.1336_1338delinsAGA
NM_000314.7:c.766_768delinsAGA	NP_000305.3:p.Glu256Arg
NM_001304717.5:c.1285_1287delinsAGA	NP_001291646.4:p.Glu429Arg
NM_001304718.2:c.175_177delinsAGA	NP_001291647.1:p.Glu59Arg
NM_000314.8:c.766_768delinsAGA MANE Select	NP_000305.3:p.Glu256Arg