Canonical Allele Identifier: CA709007743

Gene: TSHR

Linked Data

• dbSNP Id: rs1229331021
• MyVariant Identifiers: chr14:g.81610221del (hg19) ; chr14:g.81143877del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143877del , CM000676.2:g.81143877del	GRCh38
NC_000014.8:g.81610221del , CM000676.1:g.81610221del	GRCh37
NC_000014.7:g.80679974del	NCBI36
NG_009206.1:g.193353del , LRG_523:g.193353del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.1819del MANE Select	ENSP00000298171.2:p.Thr607GlnfsTer23
ENST00000637447.1:c.722del
ENST00000298171.6:c.1819del	ENSP00000298171.2:p.Thr607GlnfsTer23
ENST00000541158.6:c.1819del	ENSP00000441235.2:p.Thr607GlnfsTer23
NM_000369.2:c.1819del , LRG_523t1:c.1819del	NP_000360.2:p.Thr607GlnfsTer23
XM_005268037.3:c.1819del	XP_005268094.1:p.Thr607GlnfsTer23
XM_011537119.1:c.1540del	XP_011535421.1:p.Thr514GlnfsTer23
XR_245790.3:n.2086+21316del
XR_429385.2:n.853+21316del
XR_429386.2:n.854+21316del
XR_944075.1:n.865+21316del
XR_944076.1:n.861+21316del
XR_944077.1:n.865+21316del
XR_944078.1:n.865+21316del
XR_944079.1:n.855+21316del
XM_005268037.4:c.1819del	XP_005268094.1:p.Thr607GlnfsTer23
XM_011537119.2:c.1540del	XP_011535421.1:p.Thr514GlnfsTer23
XR_001751021.1:n.2753+21316del
XR_001751022.1:n.2753+21316del
XR_001751023.1:n.2753+21316del
XR_944075.3:n.929+21316del
NM_000369.4:c.1819del	NP_000360.2:p.Thr607GlnfsTer23
NM_000369.5:c.1819del MANE Select	NP_000360.2:p.Thr607GlnfsTer23