Canonical Allele Identifier: CA2150076078
Gene: TSHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81143925_81143926delinsGC , CM000676.2:g.81143925_81143926delinsGC GRCh38
NC_000014.8:g.81610269_81610270delinsGC , CM000676.1:g.81610269_81610270delinsGC GRCh37
NC_000014.7:g.80680022_80680023delinsGC NCBI36
NG_009206.1:g.193401_193402delinsGC , LRG_523:g.193401_193402delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.1867_1868delinsGC MANE Select ENSP00000298171.2:p.Ala623=
ENST00000637447.1:c.770_771delinsGC
ENST00000298171.6:c.1867_1868delinsGC ENSP00000298171.2:p.Ala623=
ENST00000541158.6:c.1867_1868delinsGC ENSP00000441235.2:p.Ala623=
NM_000369.2:c.1867_1868delinsGC , LRG_523t1:c.1867_1868delinsGC NP_000360.2:p.Ala623=
XM_005268037.3:c.1867_1868delinsGC XP_005268094.1:p.Ala623=
XM_011537119.1:c.1588_1589delinsGC XP_011535421.1:p.Ala530=
XR_245790.3:n.2086+21267_2086+21268delinsGC
XR_429385.2:n.853+21267_853+21268delinsGC
XR_429386.2:n.854+21267_854+21268delinsGC
XR_944075.1:n.865+21267_865+21268delinsGC
XR_944076.1:n.861+21267_861+21268delinsGC
XR_944077.1:n.865+21267_865+21268delinsGC
XR_944078.1:n.865+21267_865+21268delinsGC
XR_944079.1:n.855+21267_855+21268delinsGC
XM_005268037.4:c.1867_1868delinsGC XP_005268094.1:p.Ala623=
XM_011537119.2:c.1588_1589delinsGC XP_011535421.1:p.Ala530=
XR_001751021.1:n.2753+21267_2753+21268delinsGC
XR_001751022.1:n.2753+21267_2753+21268delinsGC
XR_001751023.1:n.2753+21267_2753+21268delinsGC
XR_944075.3:n.929+21267_929+21268delinsGC
NM_000369.4:c.1867_1868delinsGC NP_000360.2:p.Ala623=
NM_000369.5:c.1867_1868delinsGC MANE Select NP_000360.2:p.Ala623=