Canonical Allele Identifier: CA2832549860

Gene: TSHR

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143406dup , CM000676.2:g.81143406dup	GRCh38
NC_000014.8:g.81609750dup , CM000676.1:g.81609750dup	GRCh37
NC_000014.7:g.80679503dup	NCBI36
NG_009206.1:g.192882dup , LRG_523:g.192882dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1348dup MANE Select	ENSP00000298171.2:p.Arg450ProfsTer?
ENST00000636454.1:n.1266dup
ENST00000637447.1:c.251dup
ENST00000298171.6:c.1348dup	ENSP00000298171.2:p.Arg450ProfsTer?
ENST00000541158.6:c.1348dup	ENSP00000441235.2:p.Arg450ProfsTer?
NM_000369.2:c.1348dup , LRG_523t1:c.1348dup	NP_000360.2:p.Arg450ProfsTer?
XM_005268037.3:c.1348dup	XP_005268094.1:p.Arg450ProfsTer?
XM_011537119.1:c.1069dup	XP_011535421.1:p.Arg357ProfsTer?
XR_245790.3:n.2086+21791dup
XR_429385.2:n.853+21791dup
XR_429386.2:n.854+21791dup
XR_944075.1:n.865+21791dup
XR_944076.1:n.861+21791dup
XR_944077.1:n.865+21791dup
XR_944078.1:n.865+21791dup
XR_944079.1:n.855+21791dup
XM_005268037.4:c.1348dup	XP_005268094.1:p.Arg450ProfsTer?
XM_011537119.2:c.1069dup	XP_011535421.1:p.Arg357ProfsTer?
XR_001751021.1:n.2753+21791dup
XR_001751022.1:n.2753+21791dup
XR_001751023.1:n.2753+21791dup
XR_944075.3:n.929+21791dup
NM_000369.4:c.1348dup	NP_000360.2:p.Arg450ProfsTer?
NM_000369.5:c.1348dup MANE Select	NP_000360.2:p.Arg450ProfsTer?