Canonical Allele Identifier: CA2740097179

Gene: TSHR

Linked Data

• ClinVar Variation Id: 3012862
• ClinVar RCV Id: RCV003877973

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81142946del , CM000676.2:g.81142946del	GRCh38
NC_000014.8:g.81609290del , CM000676.1:g.81609290del	GRCh37
NC_000014.7:g.80679043del	NCBI36
NG_009206.1:g.192422del , LRG_523:g.192422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.888del MANE Select	ENSP00000298171.2:p.Glu297SerfsTer3
ENST00000636454.1:n.806del
ENST00000298171.6:c.888del	ENSP00000298171.2:p.Glu297SerfsTer3
ENST00000541158.6:c.888del	ENSP00000441235.2:p.Glu297SerfsTer3
NM_000369.2:c.888del , LRG_523t1:c.888del	NP_000360.2:p.Glu297SerfsTer3
XM_005268037.3:c.888del	XP_005268094.1:p.Glu297SerfsTer3
XM_011537119.1:c.609del	XP_011535421.1:p.Glu204SerfsTer3
XR_245790.3:n.2086+22248del
XR_429385.2:n.853+22248del
XR_429386.2:n.854+22248del
XR_944075.1:n.865+22248del
XR_944076.1:n.861+22248del
XR_944077.1:n.865+22248del
XR_944078.1:n.865+22248del
XR_944079.1:n.855+22248del
XM_005268037.4:c.888del	XP_005268094.1:p.Glu297SerfsTer3
XM_011537119.2:c.609del	XP_011535421.1:p.Glu204SerfsTer3
XR_001751021.1:n.2753+22248del
XR_001751022.1:n.2753+22248del
XR_001751023.1:n.2753+22248del
XR_944075.3:n.929+22248del
NM_000369.4:c.888del	NP_000360.2:p.Glu297SerfsTer3
NM_000369.5:c.888del MANE Select	NP_000360.2:p.Glu297SerfsTer3