Canonical Allele Identifier: CA2150074540
Gene: TSHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81142974_81142983delinsATGCAGAGCT , CM000676.2:g.81142974_81142983delinsATGCAGAGCT GRCh38
NC_000014.8:g.81609318_81609327delinsATGCAGAGCT , CM000676.1:g.81609318_81609327delinsATGCAGAGCT GRCh37
NC_000014.7:g.80679071_80679080delinsATGCAGAGCT NCBI36
NG_009206.1:g.192450_192459delinsATGCAGAGCT , LRG_523:g.192450_192459delinsATGCAGAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.916_925delinsATGCAGAGCT MANE Select ENSP00000298171.2:p.Met306=
ENST00000636454.1:n.834_843delinsATGCAGAGCT
ENST00000298171.6:c.916_925delinsATGCAGAGCT ENSP00000298171.2:p.Met306=
ENST00000541158.6:c.916_925delinsATGCAGAGCT ENSP00000441235.2:p.Met306=
NM_000369.2:c.916_925delinsATGCAGAGCT , LRG_523t1:c.916_925delinsATGCAGAGCT NP_000360.2:p.Met306=
XM_005268037.3:c.916_925delinsATGCAGAGCT XP_005268094.1:p.Met306=
XM_011537119.1:c.637_646delinsATGCAGAGCT XP_011535421.1:p.Met213=
XR_245790.3:n.2086+22210_2086+22219delinsAGCTCTGCAT
XR_429385.2:n.853+22210_853+22219delinsAGCTCTGCAT
XR_429386.2:n.854+22210_854+22219delinsAGCTCTGCAT
XR_944075.1:n.865+22210_865+22219delinsAGCTCTGCAT
XR_944076.1:n.861+22210_861+22219delinsAGCTCTGCAT
XR_944077.1:n.865+22210_865+22219delinsAGCTCTGCAT
XR_944078.1:n.865+22210_865+22219delinsAGCTCTGCAT
XR_944079.1:n.855+22210_855+22219delinsAGCTCTGCAT
XM_005268037.4:c.916_925delinsATGCAGAGCT XP_005268094.1:p.Met306=
XM_011537119.2:c.637_646delinsATGCAGAGCT XP_011535421.1:p.Met213=
XR_001751021.1:n.2753+22210_2753+22219delinsAGCTCTGCAT
XR_001751022.1:n.2753+22210_2753+22219delinsAGCTCTGCAT
XR_001751023.1:n.2753+22210_2753+22219delinsAGCTCTGCAT
XR_944075.3:n.929+22210_929+22219delinsAGCTCTGCAT
NM_000369.4:c.916_925delinsATGCAGAGCT NP_000360.2:p.Met306=
NM_000369.5:c.916_925delinsATGCAGAGCT MANE Select NP_000360.2:p.Met306=