Canonical Allele Identifier: CA965224576

Gene: TSHR

Linked Data

• dbSNP Id: rs1891837755
• gnomAD v3: 14-81144174-T-TCAGGA
• gnomAD v4: 14-81144174-T-TCAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144174_81144175insCAGGA , CM000676.2:g.81144174_81144175insCAGGA	GRCh38
NC_000014.8:g.81610518_81610519insCAGGA , CM000676.1:g.81610518_81610519insCAGGA	GRCh37
NC_000014.7:g.80680271_80680272insCAGGA	NCBI36
NG_009206.1:g.193650_193651insCAGGA , LRG_523:g.193650_193651insCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2116_2117insCAGGA MANE Select	ENSP00000298171.2:p.Tyr706SerfsTer25
ENST00000637447.1:c.1019_1020insCAGGA
ENST00000298171.6:c.2116_2117insCAGGA	ENSP00000298171.2:p.Tyr706SerfsTer25
ENST00000541158.6:c.2116_2117insCAGGA	ENSP00000441235.2:p.Tyr706SerfsTer25
NM_000369.2:c.2116_2117insCAGGA , LRG_523t1:c.2116_2117insCAGGA	NP_000360.2:p.Tyr706SerfsTer25
XM_005268037.3:c.2116_2117insCAGGA	XP_005268094.1:p.Tyr706SerfsTer25
XM_011537119.1:c.1837_1838insCAGGA	XP_011535421.1:p.Tyr613SerfsTer25
XR_245790.3:n.2086+21018_2086+21019insTCCTG
XR_429385.2:n.853+21018_853+21019insTCCTG
XR_429386.2:n.854+21018_854+21019insTCCTG
XR_944075.1:n.865+21018_865+21019insTCCTG
XR_944076.1:n.861+21018_861+21019insTCCTG
XR_944077.1:n.865+21018_865+21019insTCCTG
XR_944078.1:n.865+21018_865+21019insTCCTG
XR_944079.1:n.855+21018_855+21019insTCCTG
XM_005268037.4:c.2116_2117insCAGGA	XP_005268094.1:p.Tyr706SerfsTer25
XM_011537119.2:c.1837_1838insCAGGA	XP_011535421.1:p.Tyr613SerfsTer25
XR_001751021.1:n.2753+21018_2753+21019insTCCTG
XR_001751022.1:n.2753+21018_2753+21019insTCCTG
XR_001751023.1:n.2753+21018_2753+21019insTCCTG
XR_944075.3:n.929+21018_929+21019insTCCTG
NM_000369.4:c.2116_2117insCAGGA	NP_000360.2:p.Tyr706SerfsTer25
NM_000369.5:c.2116_2117insCAGGA MANE Select	NP_000360.2:p.Tyr706SerfsTer25