Canonical Allele Identifier: CA2501674315
Gene: TSHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81144231del , CM000676.2:g.81144231del GRCh38
NC_000014.8:g.81610575del , CM000676.1:g.81610575del GRCh37
NC_000014.7:g.80680328del NCBI36
NG_009206.1:g.193707del , LRG_523:g.193707del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.2173del MANE Select ENSP00000298171.2:p.Thr725ProfsTer4
ENST00000637447.1:c.1076del
ENST00000298171.6:c.2173del ENSP00000298171.2:p.Thr725ProfsTer4
ENST00000541158.6:c.2173del ENSP00000441235.2:p.Thr725ProfsTer4
NM_000369.2:c.2173del , LRG_523t1:c.2173del NP_000360.2:p.Thr725ProfsTer4
XM_005268037.3:c.2173del XP_005268094.1:p.Thr725ProfsTer4
XM_011537119.1:c.1894del XP_011535421.1:p.Thr632ProfsTer4
XR_245790.3:n.2086+20962del
XR_429385.2:n.853+20962del
XR_429386.2:n.854+20962del
XR_944075.1:n.865+20962del
XR_944076.1:n.861+20962del
XR_944077.1:n.865+20962del
XR_944078.1:n.865+20962del
XR_944079.1:n.855+20962del
XM_005268037.4:c.2173del XP_005268094.1:p.Thr725ProfsTer4
XM_011537119.2:c.1894del XP_011535421.1:p.Thr632ProfsTer4
XR_001751021.1:n.2753+20962del
XR_001751022.1:n.2753+20962del
XR_001751023.1:n.2753+20962del
XR_944075.3:n.929+20962del
NM_000369.4:c.2173del NP_000360.2:p.Thr725ProfsTer4
NM_000369.5:c.2173del MANE Select NP_000360.2:p.Thr725ProfsTer4