Canonical Allele Identifier: CA2150076449
Gene: TSHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81144171_81144172delinsGC , CM000676.2:g.81144171_81144172delinsGC GRCh38
NC_000014.8:g.81610515_81610516delinsGC , CM000676.1:g.81610515_81610516delinsGC GRCh37
NC_000014.7:g.80680268_80680269delinsGC NCBI36
NG_009206.1:g.193647_193648delinsGC , LRG_523:g.193647_193648delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.2113_2114delinsGC MANE Select ENSP00000298171.2:p.Ala705=
ENST00000637447.1:c.1016_1017delinsGC
ENST00000298171.6:c.2113_2114delinsGC ENSP00000298171.2:p.Ala705=
ENST00000541158.6:c.2113_2114delinsGC ENSP00000441235.2:p.Ala705=
NM_000369.2:c.2113_2114delinsGC , LRG_523t1:c.2113_2114delinsGC NP_000360.2:p.Ala705=
XM_005268037.3:c.2113_2114delinsGC XP_005268094.1:p.Ala705=
XM_011537119.1:c.1834_1835delinsGC XP_011535421.1:p.Ala612=
XR_245790.3:n.2086+21021_2086+21022delinsGC
XR_429385.2:n.853+21021_853+21022delinsGC
XR_429386.2:n.854+21021_854+21022delinsGC
XR_944075.1:n.865+21021_865+21022delinsGC
XR_944076.1:n.861+21021_861+21022delinsGC
XR_944077.1:n.865+21021_865+21022delinsGC
XR_944078.1:n.865+21021_865+21022delinsGC
XR_944079.1:n.855+21021_855+21022delinsGC
XM_005268037.4:c.2113_2114delinsGC XP_005268094.1:p.Ala705=
XM_011537119.2:c.1834_1835delinsGC XP_011535421.1:p.Ala612=
XR_001751021.1:n.2753+21021_2753+21022delinsGC
XR_001751022.1:n.2753+21021_2753+21022delinsGC
XR_001751023.1:n.2753+21021_2753+21022delinsGC
XR_944075.3:n.929+21021_929+21022delinsGC
NM_000369.4:c.2113_2114delinsGC NP_000360.2:p.Ala705=
NM_000369.5:c.2113_2114delinsGC MANE Select NP_000360.2:p.Ala705=