Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958008_87958010delinsTAT , CM000672.2:g.87958008_87958010delinsTAT	GRCh38
NC_000010.10:g.89717765_89717767delinsTAT , CM000672.1:g.89717765_89717767delinsTAT	GRCh37
NC_000010.9:g.89707745_89707747delinsTAT	NCBI36
NG_007466.2:g.99570_99572delinsTAT , LRG_311:g.99570_99572delinsTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.790_792delinsTAT	ENSP00000514759.2:p.Met264Tyr
ENST00000710265.1:c.790_792delinsTAT	ENSP00000518161.1:p.Met264Tyr
ENST00000472832.3:c.790_792delinsTAT	ENSP00000483066.2:p.Met264Tyr
ENST00000688158.2:n.1525_1527delinsTAT
ENST00000688922.2:c.620_622delinsTAT	ENSP00000508742.2:n.620_622delinsTAT
ENST00000700021.1:c.745_747delinsTAT	ENSP00000514757.1:p.Met249Tyr
ENST00000700022.1:c.129_131delinsTAT	ENSP00000514758.1:n.129_131delinsTAT
ENST00000700023.1:n.1948_1950delinsTAT
ENST00000700024.1:n.2182_2184delinsTAT
ENST00000700025.1:n.1559_1561delinsTAT
ENST00000700026.1:n.427_429delinsTAT
ENST00000700029.1:c.624_626delinsTAT
ENST00000706954.1:c.790_792delinsTAT	ENSP00000516674.1:p.Met264Tyr
ENST00000706955.1:c.825_827delinsTAT	ENSP00000516675.1:n.825_827delinsTAT
ENST00000686459.1:c.376_378delinsTAT	ENSP00000508909.1:n.376_378delinsTAT
ENST00000688158.1:c.901_903delinsTAT	ENSP00000509254.1:n.901_903delinsTAT
ENST00000688308.1:c.790_792delinsTAT	ENSP00000508752.1:p.Met264Tyr
ENST00000688922.1:c.711_713delinsTAT
ENST00000693560.1:c.1309_1311delinsTAT	ENSP00000509861.1:p.Met437Tyr
ENST00000371953.8:c.790_792delinsTAT MANE Select	ENSP00000361021.3:p.Met264Tyr
ENST00000371953.7:c.790_792delinsTAT	ENSP00000361021.3:p.Met264Tyr
ENST00000472832.2:c.217_219delinsTAT	ENSP00000483066.1:p.Met73Tyr
NM_000314.5:c.790_792delinsTAT	NP_000305.3:p.Met264Tyr
NM_000314.6:c.790_792delinsTAT	NP_000305.3:p.Met264Tyr
NM_001304717.2:c.1309_1311delinsTAT	NP_001291646.2:p.Met437Tyr
NM_001304718.1:c.199_201delinsTAT	NP_001291647.1:p.Met67Tyr
XM_006717926.2:c.745_747delinsTAT	XP_006717989.1:p.Met249Tyr
XM_011539981.1:c.790_792delinsTAT	XP_011538283.1:p.Met264Tyr
XM_011539982.1:c.694_696delinsTAT	XP_011538284.1:p.Met232Tyr
XR_945791.1:n.1360_1362delinsTAT
NM_000314.7:c.790_792delinsTAT	NP_000305.3:p.Met264Tyr
NM_001304717.5:c.1309_1311delinsTAT	NP_001291646.4:p.Met437Tyr
NM_001304718.2:c.199_201delinsTAT	NP_001291647.1:p.Met67Tyr
NM_000314.8:c.790_792delinsTAT MANE Select	NP_000305.3:p.Met264Tyr