Canonical Allele Identifier: CA2730199069

Gene: TSHR

Linked Data

• dbSNP Id: rs2140113835

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144146_81144147insTGGAGTTGCTAACAGTGATGAGA , CM000676.2:g.81144146_81144147insTGGAGTTGCTAACAGTGATGAGA	GRCh38
NC_000014.8:g.81610490_81610491insTGGAGTTGCTAACAGTGATGAGA , CM000676.1:g.81610490_81610491insTGGAGTTGCTAACAGTGATGAGA	GRCh37
NC_000014.7:g.80680243_80680244insTGGAGTTGCTAACAGTGATGAGA	NCBI36
NG_009206.1:g.193622_193623insTGGAGTTGCTAACAGTGATGAGA , LRG_523:g.193622_193623insTGGAGTTGCTAACAGTGATGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2088_2089insTGGAGTTGCTAACAGTGATGAGA MANE Select	ENSP00000298171.2:p.Gly697TrpfsTer4
ENST00000637447.1:c.991_992insTGGAGTTGCTAACAGTGATGAGA
ENST00000298171.6:c.2088_2089insTGGAGTTGCTAACAGTGATGAGA	ENSP00000298171.2:p.Gly697TrpfsTer4
ENST00000541158.6:c.2088_2089insTGGAGTTGCTAACAGTGATGAGA	ENSP00000441235.2:p.Gly697TrpfsTer4
NM_000369.2:c.2088_2089insTGGAGTTGCTAACAGTGATGAGA , LRG_523t1:c.2088_2089insTGGAGTTGCTAACAGTGATGAGA	NP_000360.2:p.Gly697TrpfsTer4
XM_005268037.3:c.2088_2089insTGGAGTTGCTAACAGTGATGAGA	XP_005268094.1:p.Gly697TrpfsTer4
XM_011537119.1:c.1809_1810insTGGAGTTGCTAACAGTGATGAGA	XP_011535421.1:p.Gly604TrpfsTer4
XR_245790.3:n.2086+21046_2086+21047insTCTCATCACTGTTAGCAACTCCA
XR_429385.2:n.853+21046_853+21047insTCTCATCACTGTTAGCAACTCCA
XR_429386.2:n.854+21046_854+21047insTCTCATCACTGTTAGCAACTCCA
XR_944075.1:n.865+21046_865+21047insTCTCATCACTGTTAGCAACTCCA
XR_944076.1:n.861+21046_861+21047insTCTCATCACTGTTAGCAACTCCA
XR_944077.1:n.865+21046_865+21047insTCTCATCACTGTTAGCAACTCCA
XR_944078.1:n.865+21046_865+21047insTCTCATCACTGTTAGCAACTCCA
XR_944079.1:n.855+21046_855+21047insTCTCATCACTGTTAGCAACTCCA
XM_005268037.4:c.2088_2089insTGGAGTTGCTAACAGTGATGAGA	XP_005268094.1:p.Gly697TrpfsTer4
XM_011537119.2:c.1809_1810insTGGAGTTGCTAACAGTGATGAGA	XP_011535421.1:p.Gly604TrpfsTer4
XR_001751021.1:n.2753+21046_2753+21047insTCTCATCACTGTTAGCAACTCCA
XR_001751022.1:n.2753+21046_2753+21047insTCTCATCACTGTTAGCAACTCCA
XR_001751023.1:n.2753+21046_2753+21047insTCTCATCACTGTTAGCAACTCCA
XR_944075.3:n.929+21046_929+21047insTCTCATCACTGTTAGCAACTCCA
NM_000369.4:c.2088_2089insTGGAGTTGCTAACAGTGATGAGA	NP_000360.2:p.Gly697TrpfsTer4
NM_000369.5:c.2088_2089insTGGAGTTGCTAACAGTGATGAGA MANE Select	NP_000360.2:p.Gly697TrpfsTer4