Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958018_87958019delinsGA , CM000672.2:g.87958018_87958019delinsGA	GRCh38
NC_000010.10:g.89717775_89717776delinsGA , CM000672.1:g.89717775_89717776delinsGA	GRCh37
NC_000010.9:g.89707755_89707756delinsGA	NCBI36
NG_007466.2:g.99580_99581delinsGA , LRG_311:g.99580_99581delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.800_801delinsGA	ENSP00000514759.2:p.Lys267Arg
ENST00000710265.1:c.800_801delinsGA	ENSP00000518161.1:p.Lys267Arg
ENST00000472832.3:c.800_801delinsGA	ENSP00000483066.2:p.Lys267Arg
ENST00000688158.2:n.1535_1536delinsGA
ENST00000688922.2:c.630_631delinsGA	ENSP00000508742.2:n.630_631delinsGA
ENST00000700021.1:c.755_756delinsGA	ENSP00000514757.1:p.Lys252Arg
ENST00000700022.1:c.139_140delinsGA	ENSP00000514758.1:n.139_140delinsGA
ENST00000700023.1:n.1958_1959delinsGA
ENST00000700024.1:n.2192_2193delinsGA
ENST00000700025.1:n.1569_1570delinsGA
ENST00000700026.1:n.437_438delinsGA
ENST00000700029.1:c.634_635delinsGA
ENST00000706954.1:c.800_801delinsGA	ENSP00000516674.1:p.Lys267Arg
ENST00000706955.1:c.835_836delinsGA	ENSP00000516675.1:n.835_836delinsGA
ENST00000686459.1:c.386_387delinsGA	ENSP00000508909.1:n.386_387delinsGA
ENST00000688158.1:c.911_912delinsGA	ENSP00000509254.1:n.911_912delinsGA
ENST00000688308.1:c.800_801delinsGA	ENSP00000508752.1:p.Lys267Arg
ENST00000688922.1:c.721_722delinsGA
ENST00000693560.1:c.1319_1320delinsGA	ENSP00000509861.1:p.Lys440Arg
ENST00000371953.8:c.800_801delinsGA MANE Select	ENSP00000361021.3:p.Lys267Arg
ENST00000371953.7:c.800_801delinsGA	ENSP00000361021.3:p.Lys267Arg
ENST00000472832.2:c.227_228delinsGA	ENSP00000483066.1:p.Lys76Arg
NM_000314.5:c.800_801delinsGA	NP_000305.3:p.Lys267Arg
NM_000314.6:c.800_801delinsGA	NP_000305.3:p.Lys267Arg
NM_001304717.2:c.1319_1320delinsGA	NP_001291646.2:p.Lys440Arg
NM_001304718.1:c.209_210delinsGA	NP_001291647.1:p.Lys70Arg
XM_006717926.2:c.755_756delinsGA	XP_006717989.1:p.Lys252Arg
XM_011539981.1:c.800_801delinsGA	XP_011538283.1:p.Lys267Arg
XM_011539982.1:c.704_705delinsGA	XP_011538284.1:p.Lys235Arg
XR_945791.1:n.1370_1371delinsGA
NM_000314.7:c.800_801delinsGA	NP_000305.3:p.Lys267Arg
NM_001304717.5:c.1319_1320delinsGA	NP_001291646.4:p.Lys440Arg
NM_001304718.2:c.209_210delinsGA	NP_001291647.1:p.Lys70Arg
NM_000314.8:c.800_801delinsGA MANE Select	NP_000305.3:p.Lys267Arg