Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957984_87957985delinsCG , CM000672.2:g.87957984_87957985delinsCG	GRCh38
NC_000010.10:g.89717741_89717742delinsCG , CM000672.1:g.89717741_89717742delinsCG	GRCh37
NC_000010.9:g.89707721_89707722delinsCG	NCBI36
NG_007466.2:g.99546_99547delinsCG , LRG_311:g.99546_99547delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.766_767delinsCG	ENSP00000514759.2:p.Glu256Arg
ENST00000710265.1:c.766_767delinsCG	ENSP00000518161.1:p.Glu256Arg
ENST00000472832.3:c.766_767delinsCG	ENSP00000483066.2:p.Glu256Arg
ENST00000688158.2:n.1501_1502delinsCG
ENST00000688922.2:c.596_597delinsCG	ENSP00000508742.2:n.596_597delinsCG
ENST00000700021.1:c.721_722delinsCG	ENSP00000514757.1:p.Glu241Arg
ENST00000700022.1:c.105_106delinsCG	ENSP00000514758.1:n.105_106delinsCG
ENST00000700023.1:n.1924_1925delinsCG
ENST00000700024.1:n.2158_2159delinsCG
ENST00000700025.1:n.1535_1536delinsCG
ENST00000700026.1:n.403_404delinsCG
ENST00000700029.1:c.600_601delinsCG
ENST00000706954.1:c.766_767delinsCG	ENSP00000516674.1:p.Glu256Arg
ENST00000706955.1:c.801_802delinsCG	ENSP00000516675.1:n.801_802delinsCG
ENST00000686459.1:c.352_353delinsCG	ENSP00000508909.1:n.352_353delinsCG
ENST00000688158.1:c.877_878delinsCG	ENSP00000509254.1:n.877_878delinsCG
ENST00000688308.1:c.766_767delinsCG	ENSP00000508752.1:p.Glu256Arg
ENST00000688922.1:c.687_688delinsCG
ENST00000693560.1:c.1285_1286delinsCG	ENSP00000509861.1:p.Glu429Arg
ENST00000371953.8:c.766_767delinsCG MANE Select	ENSP00000361021.3:p.Glu256Arg
ENST00000371953.7:c.766_767delinsCG	ENSP00000361021.3:p.Glu256Arg
ENST00000472832.2:c.193_194delinsCG	ENSP00000483066.1:p.Glu65Arg
NM_000314.5:c.766_767delinsCG	NP_000305.3:p.Glu256Arg
NM_000314.6:c.766_767delinsCG	NP_000305.3:p.Glu256Arg
NM_001304717.2:c.1285_1286delinsCG	NP_001291646.2:p.Glu429Arg
NM_001304718.1:c.175_176delinsCG	NP_001291647.1:p.Glu59Arg
XM_006717926.2:c.721_722delinsCG	XP_006717989.1:p.Glu241Arg
XM_011539981.1:c.766_767delinsCG	XP_011538283.1:p.Glu256Arg
XM_011539982.1:c.670_671delinsCG	XP_011538284.1:p.Glu224Arg
XR_945791.1:n.1336_1337delinsCG
NM_000314.7:c.766_767delinsCG	NP_000305.3:p.Glu256Arg
NM_001304717.5:c.1285_1286delinsCG	NP_001291646.4:p.Glu429Arg
NM_001304718.2:c.175_176delinsCG	NP_001291647.1:p.Glu59Arg
NM_000314.8:c.766_767delinsCG MANE Select	NP_000305.3:p.Glu256Arg