Canonical Allele Identifier: CA2730198791

Gene: TSHR

Linked Data

• dbSNP Id: rs2140113809

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144143_81144144insA , CM000676.2:g.81144143_81144144insA	GRCh38
NC_000014.8:g.81610487_81610488insA , CM000676.1:g.81610487_81610488insA	GRCh37
NC_000014.7:g.80680240_80680241insA	NCBI36
NG_009206.1:g.193619_193620insA , LRG_523:g.193619_193620insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2085_2086insA MANE Select	ENSP00000298171.2:p.Phe696IlefsTer5
ENST00000637447.1:c.988_989insA
ENST00000298171.6:c.2085_2086insA	ENSP00000298171.2:p.Phe696IlefsTer5
ENST00000541158.6:c.2085_2086insA	ENSP00000441235.2:p.Phe696IlefsTer5
NM_000369.2:c.2085_2086insA , LRG_523t1:c.2085_2086insA	NP_000360.2:p.Phe696IlefsTer5
XM_005268037.3:c.2085_2086insA	XP_005268094.1:p.Phe696IlefsTer5
XM_011537119.1:c.1806_1807insA	XP_011535421.1:p.Phe603IlefsTer5
XR_245790.3:n.2086+21049_2086+21050insT
XR_429385.2:n.853+21049_853+21050insT
XR_429386.2:n.854+21049_854+21050insT
XR_944075.1:n.865+21049_865+21050insT
XR_944076.1:n.861+21049_861+21050insT
XR_944077.1:n.865+21049_865+21050insT
XR_944078.1:n.865+21049_865+21050insT
XR_944079.1:n.855+21049_855+21050insT
XM_005268037.4:c.2085_2086insA	XP_005268094.1:p.Phe696IlefsTer5
XM_011537119.2:c.1806_1807insA	XP_011535421.1:p.Phe603IlefsTer5
XR_001751021.1:n.2753+21049_2753+21050insT
XR_001751022.1:n.2753+21049_2753+21050insT
XR_001751023.1:n.2753+21049_2753+21050insT
XR_944075.3:n.929+21049_929+21050insT
NM_000369.4:c.2085_2086insA	NP_000360.2:p.Phe696IlefsTer5
NM_000369.5:c.2085_2086insA MANE Select	NP_000360.2:p.Phe696IlefsTer5