Canonical Allele Identifier: CA965224570

Gene: TSHR

Linked Data

• dbSNP Id: rs1891837478
• gnomAD v3: 14-81144172-CA-C
• gnomAD v4: 14-81144172-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144173del , CM000676.2:g.81144173del	GRCh38
NC_000014.8:g.81610517del , CM000676.1:g.81610517del	GRCh37
NC_000014.7:g.80680270del	NCBI36
NG_009206.1:g.193649del , LRG_523:g.193649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2115del MANE Select	ENSP00000298171.2:p.Tyr706ThrfsTer23
ENST00000637447.1:c.1018del
ENST00000298171.6:c.2115del	ENSP00000298171.2:p.Tyr706ThrfsTer23
ENST00000541158.6:c.2115del	ENSP00000441235.2:p.Tyr706ThrfsTer23
NM_000369.2:c.2115del , LRG_523t1:c.2115del	NP_000360.2:p.Tyr706ThrfsTer23
XM_005268037.3:c.2115del	XP_005268094.1:p.Tyr706ThrfsTer23
XM_011537119.1:c.1836del	XP_011535421.1:p.Tyr613ThrfsTer23
XR_245790.3:n.2086+21020del
XR_429385.2:n.853+21020del
XR_429386.2:n.854+21020del
XR_944075.1:n.865+21020del
XR_944076.1:n.861+21020del
XR_944077.1:n.865+21020del
XR_944078.1:n.865+21020del
XR_944079.1:n.855+21020del
XM_005268037.4:c.2115del	XP_005268094.1:p.Tyr706ThrfsTer23
XM_011537119.2:c.1836del	XP_011535421.1:p.Tyr613ThrfsTer23
XR_001751021.1:n.2753+21020del
XR_001751022.1:n.2753+21020del
XR_001751023.1:n.2753+21020del
XR_944075.3:n.929+21020del
NM_000369.4:c.2115del	NP_000360.2:p.Tyr706ThrfsTer23
NM_000369.5:c.2115del MANE Select	NP_000360.2:p.Tyr706ThrfsTer23