Canonical Allele Identifier: CA2739280041

Gene: TSHR

Linked Data

• ClinVar Variation Id: 2866057
• ClinVar RCV Id: RCV003705008

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143010_81143020del , CM000676.2:g.81143010_81143020del	GRCh38
NC_000014.8:g.81609354_81609364del , CM000676.1:g.81609354_81609364del	GRCh37
NC_000014.7:g.80679107_80679117del	NCBI36
NG_009206.1:g.192486_192496del , LRG_523:g.192486_192496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.952_962del MANE Select	ENSP00000298171.2:p.Leu318ProfsTer6
ENST00000636454.1:n.870_880del
ENST00000298171.6:c.952_962del	ENSP00000298171.2:p.Leu318ProfsTer6
ENST00000541158.6:c.952_962del	ENSP00000441235.2:p.Leu318ProfsTer6
NM_000369.2:c.952_962del , LRG_523t1:c.952_962del	NP_000360.2:p.Leu318ProfsTer6
XM_005268037.3:c.952_962del	XP_005268094.1:p.Leu318ProfsTer6
XM_011537119.1:c.673_683del	XP_011535421.1:p.Leu225ProfsTer6
XR_245790.3:n.2086+22175_2086+22185del
XR_429385.2:n.853+22175_853+22185del
XR_429386.2:n.854+22175_854+22185del
XR_944075.1:n.865+22175_865+22185del
XR_944076.1:n.861+22175_861+22185del
XR_944077.1:n.865+22175_865+22185del
XR_944078.1:n.865+22175_865+22185del
XR_944079.1:n.855+22175_855+22185del
XM_005268037.4:c.952_962del	XP_005268094.1:p.Leu318ProfsTer6
XM_011537119.2:c.673_683del	XP_011535421.1:p.Leu225ProfsTer6
XR_001751021.1:n.2753+22175_2753+22185del
XR_001751022.1:n.2753+22175_2753+22185del
XR_001751023.1:n.2753+22175_2753+22185del
XR_944075.3:n.929+22175_929+22185del
NM_000369.4:c.952_962del	NP_000360.2:p.Leu318ProfsTer6
NM_000369.5:c.952_962del MANE Select	NP_000360.2:p.Leu318ProfsTer6