Canonical Allele Identifier: CA709007009

Gene: TSHR

Linked Data

• dbSNP Id: rs1329373653
• MyVariant Identifiers: chr14:g.81609916_81609917insC (hg19) ; chr14:g.81143572_81143573insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143573dup , CM000676.2:g.81143573dup	GRCh38
NC_000014.8:g.81609917dup , CM000676.1:g.81609917dup	GRCh37
NC_000014.7:g.80679670dup	NCBI36
NG_009206.1:g.193049dup , LRG_523:g.193049dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1515dup MANE Select	ENSP00000298171.2:p.Glu506ArgfsTer?
ENST00000636454.1:n.1433dup
ENST00000637447.1:c.418dup
ENST00000298171.6:c.1515dup	ENSP00000298171.2:p.Glu506ArgfsTer?
ENST00000541158.6:c.1515dup	ENSP00000441235.2:p.Glu506ArgfsTer?
NM_000369.2:c.1515dup , LRG_523t1:c.1515dup	NP_000360.2:p.Glu506ArgfsTer?
XM_005268037.3:c.1515dup	XP_005268094.1:p.Glu506ArgfsTer?
XM_011537119.1:c.1236dup	XP_011535421.1:p.Glu413ArgfsTer?
XR_245790.3:n.2086+21620dup
XR_429385.2:n.853+21620dup
XR_429386.2:n.854+21620dup
XR_944075.1:n.865+21620dup
XR_944076.1:n.861+21620dup
XR_944077.1:n.865+21620dup
XR_944078.1:n.865+21620dup
XR_944079.1:n.855+21620dup
XM_005268037.4:c.1515dup	XP_005268094.1:p.Glu506ArgfsTer?
XM_011537119.2:c.1236dup	XP_011535421.1:p.Glu413ArgfsTer?
XR_001751021.1:n.2753+21620dup
XR_001751022.1:n.2753+21620dup
XR_001751023.1:n.2753+21620dup
XR_944075.3:n.929+21620dup
NM_000369.4:c.1515dup	NP_000360.2:p.Glu506ArgfsTer?
NM_000369.5:c.1515dup MANE Select	NP_000360.2:p.Glu506ArgfsTer?