Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957979_87957980delinsTT , CM000672.2:g.87957979_87957980delinsTT	GRCh38
NC_000010.10:g.89717736_89717737delinsTT , CM000672.1:g.89717736_89717737delinsTT	GRCh37
NC_000010.9:g.89707716_89707717delinsTT	NCBI36
NG_007466.2:g.99541_99542delinsTT , LRG_311:g.99541_99542delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.761_762delinsTT	ENSP00000514759.2:p.Lys254Ile
ENST00000710265.1:c.761_762delinsTT	ENSP00000518161.1:p.Lys254Ile
ENST00000472832.3:c.761_762delinsTT	ENSP00000483066.2:p.Lys254Ile
ENST00000688158.2:n.1496_1497delinsTT
ENST00000688922.2:c.591_592delinsTT	ENSP00000508742.2:n.591_592delinsTT
ENST00000700021.1:c.716_717delinsTT	ENSP00000514757.1:p.Lys239Ile
ENST00000700022.1:c.100_101delinsTT	ENSP00000514758.1:n.100_101delinsTT
ENST00000700023.1:n.1919_1920delinsTT
ENST00000700024.1:n.2153_2154delinsTT
ENST00000700025.1:n.1530_1531delinsTT
ENST00000700026.1:n.398_399delinsTT
ENST00000700029.1:c.595_596delinsTT
ENST00000706954.1:c.761_762delinsTT	ENSP00000516674.1:p.Lys254Ile
ENST00000706955.1:c.796_797delinsTT	ENSP00000516675.1:n.796_797delinsTT
ENST00000686459.1:c.347_348delinsTT	ENSP00000508909.1:n.347_348delinsTT
ENST00000688158.1:c.872_873delinsTT	ENSP00000509254.1:n.872_873delinsTT
ENST00000688308.1:c.761_762delinsTT	ENSP00000508752.1:p.Lys254Ile
ENST00000688922.1:c.682_683delinsTT
ENST00000693560.1:c.1280_1281delinsTT	ENSP00000509861.1:p.Lys427Ile
ENST00000371953.8:c.761_762delinsTT MANE Select	ENSP00000361021.3:p.Lys254Ile
ENST00000371953.7:c.761_762delinsTT	ENSP00000361021.3:p.Lys254Ile
ENST00000472832.2:c.188_189delinsTT	ENSP00000483066.1:p.Lys63Ile
NM_000314.5:c.761_762delinsTT	NP_000305.3:p.Lys254Ile
NM_000314.6:c.761_762delinsTT	NP_000305.3:p.Lys254Ile
NM_001304717.2:c.1280_1281delinsTT	NP_001291646.2:p.Lys427Ile
NM_001304718.1:c.170_171delinsTT	NP_001291647.1:p.Lys57Ile
XM_006717926.2:c.716_717delinsTT	XP_006717989.1:p.Lys239Ile
XM_011539981.1:c.761_762delinsTT	XP_011538283.1:p.Lys254Ile
XM_011539982.1:c.665_666delinsTT	XP_011538284.1:p.Lys222Ile
XR_945791.1:n.1331_1332delinsTT
NM_000314.7:c.761_762delinsTT	NP_000305.3:p.Lys254Ile
NM_001304717.5:c.1280_1281delinsTT	NP_001291646.4:p.Lys427Ile
NM_001304718.2:c.170_171delinsTT	NP_001291647.1:p.Lys57Ile
NM_000314.8:c.761_762delinsTT MANE Select	NP_000305.3:p.Lys254Ile