Canonical Allele Identifier: CA2150076029

Gene: TSHR

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143892_81143893delinsCA , CM000676.2:g.81143892_81143893delinsCA	GRCh38
NC_000014.8:g.81610236_81610237delinsCA , CM000676.1:g.81610236_81610237delinsCA	GRCh37
NC_000014.7:g.80679989_80679990delinsCA	NCBI36
NG_009206.1:g.193368_193369delinsCA , LRG_523:g.193368_193369delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.1834_1835delinsCA MANE Select	ENSP00000298171.2:p.Gln612=
ENST00000637447.1:c.737_738delinsCA
ENST00000298171.6:c.1834_1835delinsCA	ENSP00000298171.2:p.Gln612=
ENST00000541158.6:c.1834_1835delinsCA	ENSP00000441235.2:p.Gln612=
NM_000369.2:c.1834_1835delinsCA , LRG_523t1:c.1834_1835delinsCA	NP_000360.2:p.Gln612=
XM_005268037.3:c.1834_1835delinsCA	XP_005268094.1:p.Gln612=
XM_011537119.1:c.1555_1556delinsCA	XP_011535421.1:p.Gln519=
XR_245790.3:n.2086+21300_2086+21301delinsTG
XR_429385.2:n.853+21300_853+21301delinsTG
XR_429386.2:n.854+21300_854+21301delinsTG
XR_944075.1:n.865+21300_865+21301delinsTG
XR_944076.1:n.861+21300_861+21301delinsTG
XR_944077.1:n.865+21300_865+21301delinsTG
XR_944078.1:n.865+21300_865+21301delinsTG
XR_944079.1:n.855+21300_855+21301delinsTG
XM_005268037.4:c.1834_1835delinsCA	XP_005268094.1:p.Gln612=
XM_011537119.2:c.1555_1556delinsCA	XP_011535421.1:p.Gln519=
XR_001751021.1:n.2753+21300_2753+21301delinsTG
XR_001751022.1:n.2753+21300_2753+21301delinsTG
XR_001751023.1:n.2753+21300_2753+21301delinsTG
XR_944075.3:n.929+21300_929+21301delinsTG
NM_000369.4:c.1834_1835delinsCA	NP_000360.2:p.Gln612=
NM_000369.5:c.1834_1835delinsCA MANE Select	NP_000360.2:p.Gln612=