Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957975_87957976delinsGA , CM000672.2:g.87957975_87957976delinsGA	GRCh38
NC_000010.10:g.89717732_89717733delinsGA , CM000672.1:g.89717732_89717733delinsGA	GRCh37
NC_000010.9:g.89707712_89707713delinsGA	NCBI36
NG_007466.2:g.99537_99538delinsGA , LRG_311:g.99537_99538delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.757_758delinsGA	ENSP00000514759.2:p.Ile253Asp
ENST00000710265.1:c.757_758delinsGA	ENSP00000518161.1:p.Ile253Asp
ENST00000472832.3:c.757_758delinsGA	ENSP00000483066.2:p.Ile253Asp
ENST00000688158.2:n.1492_1493delinsGA
ENST00000688922.2:c.587_588delinsGA	ENSP00000508742.2:n.587_588delinsGA
ENST00000700021.1:c.712_713delinsGA	ENSP00000514757.1:p.Ile238Asp
ENST00000700022.1:c.96_97delinsGA	ENSP00000514758.1:n.96_97delinsGA
ENST00000700023.1:n.1915_1916delinsGA
ENST00000700024.1:n.2149_2150delinsGA
ENST00000700025.1:n.1526_1527delinsGA
ENST00000700026.1:n.394_395delinsGA
ENST00000700029.1:c.591_592delinsGA
ENST00000706954.1:c.757_758delinsGA	ENSP00000516674.1:p.Ile253Asp
ENST00000706955.1:c.792_793delinsGA	ENSP00000516675.1:n.792_793delinsGA
ENST00000686459.1:c.343_344delinsGA	ENSP00000508909.1:n.343_344delinsGA
ENST00000688158.1:c.868_869delinsGA	ENSP00000509254.1:n.868_869delinsGA
ENST00000688308.1:c.757_758delinsGA	ENSP00000508752.1:p.Ile253Asp
ENST00000688922.1:c.678_679delinsGA
ENST00000693560.1:c.1276_1277delinsGA	ENSP00000509861.1:p.Ile426Asp
ENST00000371953.8:c.757_758delinsGA MANE Select	ENSP00000361021.3:p.Ile253Asp
ENST00000371953.7:c.757_758delinsGA	ENSP00000361021.3:p.Ile253Asp
ENST00000472832.2:c.184_185delinsGA	ENSP00000483066.1:p.Ile62Asp
NM_000314.5:c.757_758delinsGA	NP_000305.3:p.Ile253Asp
NM_000314.6:c.757_758delinsGA	NP_000305.3:p.Ile253Asp
NM_001304717.2:c.1276_1277delinsGA	NP_001291646.2:p.Ile426Asp
NM_001304718.1:c.166_167delinsGA	NP_001291647.1:p.Ile56Asp
XM_006717926.2:c.712_713delinsGA	XP_006717989.1:p.Ile238Asp
XM_011539981.1:c.757_758delinsGA	XP_011538283.1:p.Ile253Asp
XM_011539982.1:c.661_662delinsGA	XP_011538284.1:p.Ile221Asp
XR_945791.1:n.1327_1328delinsGA
NM_000314.7:c.757_758delinsGA	NP_000305.3:p.Ile253Asp
NM_001304717.5:c.1276_1277delinsGA	NP_001291646.4:p.Ile426Asp
NM_001304718.2:c.166_167delinsGA	NP_001291647.1:p.Ile56Asp
NM_000314.8:c.757_758delinsGA MANE Select	NP_000305.3:p.Ile253Asp