Canonical Allele Identifier: CA709007389

Gene: TSHR

Linked Data

• dbSNP Id: rs1339536140
• MyVariant Identifiers: chr14:g.81610073_81610076del (hg19) ; chr14:g.81143729_81143732del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143731_81143734del , CM000676.2:g.81143731_81143734del	GRCh38
NC_000014.8:g.81610075_81610078del , CM000676.1:g.81610075_81610078del	GRCh37
NC_000014.7:g.80679828_80679831del	NCBI36
NG_009206.1:g.193207_193210del , LRG_523:g.193207_193210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1673_1676del MANE Select	ENSP00000298171.2:p.Val558GlufsTer2
ENST00000636454.1:n.1591_1594del
ENST00000637447.1:c.576_579del
ENST00000298171.6:c.1673_1676del	ENSP00000298171.2:p.Val558GlufsTer2
ENST00000541158.6:c.1673_1676del	ENSP00000441235.2:p.Val558GlufsTer2
NM_000369.2:c.1673_1676del , LRG_523t1:c.1673_1676del	NP_000360.2:p.Val558GlufsTer2
XM_005268037.3:c.1673_1676del	XP_005268094.1:p.Val558GlufsTer2
XM_011537119.1:c.1394_1397del	XP_011535421.1:p.Val465GlufsTer2
XR_245790.3:n.2086+21461_2086+21464del
XR_429385.2:n.853+21461_853+21464del
XR_429386.2:n.854+21461_854+21464del
XR_944075.1:n.865+21461_865+21464del
XR_944076.1:n.861+21461_861+21464del
XR_944077.1:n.865+21461_865+21464del
XR_944078.1:n.865+21461_865+21464del
XR_944079.1:n.855+21461_855+21464del
XM_005268037.4:c.1673_1676del	XP_005268094.1:p.Val558GlufsTer2
XM_011537119.2:c.1394_1397del	XP_011535421.1:p.Val465GlufsTer2
XR_001751021.1:n.2753+21461_2753+21464del
XR_001751022.1:n.2753+21461_2753+21464del
XR_001751023.1:n.2753+21461_2753+21464del
XR_944075.3:n.929+21461_929+21464del
NM_000369.4:c.1673_1676del	NP_000360.2:p.Val558GlufsTer2
NM_000369.5:c.1673_1676del MANE Select	NP_000360.2:p.Val558GlufsTer2