Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957979_87957980delinsTG , CM000672.2:g.87957979_87957980delinsTG	GRCh38
NC_000010.10:g.89717736_89717737delinsTG , CM000672.1:g.89717736_89717737delinsTG	GRCh37
NC_000010.9:g.89707716_89707717delinsTG	NCBI36
NG_007466.2:g.99541_99542delinsTG , LRG_311:g.99541_99542delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.761_762delinsTG	ENSP00000514759.2:p.Lys254Met
ENST00000710265.1:c.761_762delinsTG	ENSP00000518161.1:p.Lys254Met
ENST00000472832.3:c.761_762delinsTG	ENSP00000483066.2:p.Lys254Met
ENST00000688158.2:n.1496_1497delinsTG
ENST00000688922.2:c.591_592delinsTG	ENSP00000508742.2:n.591_592delinsTG
ENST00000700021.1:c.716_717delinsTG	ENSP00000514757.1:p.Lys239Met
ENST00000700022.1:c.100_101delinsTG	ENSP00000514758.1:n.100_101delinsTG
ENST00000700023.1:n.1919_1920delinsTG
ENST00000700024.1:n.2153_2154delinsTG
ENST00000700025.1:n.1530_1531delinsTG
ENST00000700026.1:n.398_399delinsTG
ENST00000700029.1:c.595_596delinsTG
ENST00000706954.1:c.761_762delinsTG	ENSP00000516674.1:p.Lys254Met
ENST00000706955.1:c.796_797delinsTG	ENSP00000516675.1:n.796_797delinsTG
ENST00000686459.1:c.347_348delinsTG	ENSP00000508909.1:n.347_348delinsTG
ENST00000688158.1:c.872_873delinsTG	ENSP00000509254.1:n.872_873delinsTG
ENST00000688308.1:c.761_762delinsTG	ENSP00000508752.1:p.Lys254Met
ENST00000688922.1:c.682_683delinsTG
ENST00000693560.1:c.1280_1281delinsTG	ENSP00000509861.1:p.Lys427Met
ENST00000371953.8:c.761_762delinsTG MANE Select	ENSP00000361021.3:p.Lys254Met
ENST00000371953.7:c.761_762delinsTG	ENSP00000361021.3:p.Lys254Met
ENST00000472832.2:c.188_189delinsTG	ENSP00000483066.1:p.Lys63Met
NM_000314.5:c.761_762delinsTG	NP_000305.3:p.Lys254Met
NM_000314.6:c.761_762delinsTG	NP_000305.3:p.Lys254Met
NM_001304717.2:c.1280_1281delinsTG	NP_001291646.2:p.Lys427Met
NM_001304718.1:c.170_171delinsTG	NP_001291647.1:p.Lys57Met
XM_006717926.2:c.716_717delinsTG	XP_006717989.1:p.Lys239Met
XM_011539981.1:c.761_762delinsTG	XP_011538283.1:p.Lys254Met
XM_011539982.1:c.665_666delinsTG	XP_011538284.1:p.Lys222Met
XR_945791.1:n.1331_1332delinsTG
NM_000314.7:c.761_762delinsTG	NP_000305.3:p.Lys254Met
NM_001304717.5:c.1280_1281delinsTG	NP_001291646.4:p.Lys427Met
NM_001304718.2:c.170_171delinsTG	NP_001291647.1:p.Lys57Met
NM_000314.8:c.761_762delinsTG MANE Select	NP_000305.3:p.Lys254Met