Canonical Allele Identifier: CA2730197903
Gene: TSHR HGNC NCBI

Linked Data

dbSNP Id: rs2140113417

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81144039del , CM000676.2:g.81144039del GRCh38
NC_000014.8:g.81610383del , CM000676.1:g.81610383del GRCh37
NC_000014.7:g.80680136del NCBI36
NG_009206.1:g.193515del , LRG_523:g.193515del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.1981del MANE Select ENSP00000298171.2:p.Ile661SerfsTer?
ENST00000637447.1:c.884del
ENST00000298171.6:c.1981del ENSP00000298171.2:p.Ile661SerfsTer?
ENST00000541158.6:c.1981del ENSP00000441235.2:p.Ile661SerfsTer?
NM_000369.2:c.1981del , LRG_523t1:c.1981del NP_000360.2:p.Ile661SerfsTer?
XM_005268037.3:c.1981del XP_005268094.1:p.Ile661SerfsTer?
XM_011537119.1:c.1702del XP_011535421.1:p.Ile568SerfsTer?
XR_245790.3:n.2086+21157del
XR_429385.2:n.853+21157del
XR_429386.2:n.854+21157del
XR_944075.1:n.865+21157del
XR_944076.1:n.861+21157del
XR_944077.1:n.865+21157del
XR_944078.1:n.865+21157del
XR_944079.1:n.855+21157del
XM_005268037.4:c.1981del XP_005268094.1:p.Ile661SerfsTer?
XM_011537119.2:c.1702del XP_011535421.1:p.Ile568SerfsTer?
XR_001751021.1:n.2753+21157del
XR_001751022.1:n.2753+21157del
XR_001751023.1:n.2753+21157del
XR_944075.3:n.929+21157del
NM_000369.4:c.1981del NP_000360.2:p.Ile661SerfsTer?
NM_000369.5:c.1981del MANE Select NP_000360.2:p.Ile661SerfsTer?