Canonical Allele Identifier: CA709008421
Gene: TSHR HGNC NCBI

Linked Data

dbSNP Id: rs1330134333

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81144172_81144173insTCAGG , CM000676.2:g.81144172_81144173insTCAGG GRCh38
NC_000014.8:g.81610516_81610517insTCAGG , CM000676.1:g.81610516_81610517insTCAGG GRCh37
NC_000014.7:g.80680269_80680270insTCAGG NCBI36
NG_009206.1:g.193648_193649insTCAGG , LRG_523:g.193648_193649insTCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.2114_2115insTCAGG MANE Select ENSP00000298171.2:p.Tyr706GlnfsTer25
ENST00000637447.1:c.1017_1018insTCAGG
ENST00000298171.6:c.2114_2115insTCAGG ENSP00000298171.2:p.Tyr706GlnfsTer25
ENST00000541158.6:c.2114_2115insTCAGG ENSP00000441235.2:p.Tyr706GlnfsTer25
NM_000369.2:c.2114_2115insTCAGG , LRG_523t1:c.2114_2115insTCAGG NP_000360.2:p.Tyr706GlnfsTer25
XM_005268037.3:c.2114_2115insTCAGG XP_005268094.1:p.Tyr706GlnfsTer25
XM_011537119.1:c.1835_1836insTCAGG XP_011535421.1:p.Tyr613GlnfsTer25
XR_245790.3:n.2086+21020_2086+21021insCCTGA
XR_429385.2:n.853+21020_853+21021insCCTGA
XR_429386.2:n.854+21020_854+21021insCCTGA
XR_944075.1:n.865+21020_865+21021insCCTGA
XR_944076.1:n.861+21020_861+21021insCCTGA
XR_944077.1:n.865+21020_865+21021insCCTGA
XR_944078.1:n.865+21020_865+21021insCCTGA
XR_944079.1:n.855+21020_855+21021insCCTGA
XM_005268037.4:c.2114_2115insTCAGG XP_005268094.1:p.Tyr706GlnfsTer25
XM_011537119.2:c.1835_1836insTCAGG XP_011535421.1:p.Tyr613GlnfsTer25
XR_001751021.1:n.2753+21020_2753+21021insCCTGA
XR_001751022.1:n.2753+21020_2753+21021insCCTGA
XR_001751023.1:n.2753+21020_2753+21021insCCTGA
XR_944075.3:n.929+21020_929+21021insCCTGA
NM_000369.4:c.2114_2115insTCAGG NP_000360.2:p.Tyr706GlnfsTer25
NM_000369.5:c.2114_2115insTCAGG MANE Select NP_000360.2:p.Tyr706GlnfsTer25