Canonical Allele Identifier: CA709049847

Gene: TSHR

Linked Data

• dbSNP Id: rs1184352578
• gnomAD v3: 14-81092607-CT-C
• gnomAD v4: 14-81092607-CT-C
• MyVariant Identifiers: chr14:g.81558952del (hg19) ; chr14:g.81092608del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81092608del , CM000676.2:g.81092608del	GRCh38
NC_000014.8:g.81558952del , CM000676.1:g.81558952del	GRCh37
NC_000014.7:g.80628705del	NCBI36
NG_009206.1:g.142084del , LRG_523:g.142084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.545del MANE Select	ENSP00000298171.2:p.Leu182ArgfsTer26
ENST00000636454.1:n.463del
ENST00000298171.6:c.545del	ENSP00000298171.2:p.Leu182ArgfsTer26
ENST00000342443.10:c.545del	ENSP00000340113.6:p.Leu182ArgfsTer26
ENST00000541158.6:c.545del	ENSP00000441235.2:p.Leu182ArgfsTer26
ENST00000554263.5:c.545del	ENSP00000451202.1:p.Leu182ArgfsTer26
ENST00000554435.1:c.545del	ENSP00000450549.1:p.Leu182ArgfsTer26
NM_000369.2:c.545del , LRG_523t1:c.545del	NP_000360.2:p.Leu182ArgfsTer26
NM_001018036.2:c.545del	NP_001018046.1:p.Leu182ArgfsTer26
NM_001142626.2:c.545del	NP_001136098.1:p.Leu182ArgfsTer26
XM_005268037.3:c.545del	XP_005268094.1:p.Leu182ArgfsTer26
XM_005268039.1:c.545del	XP_005268096.1:p.Leu182ArgfsTer26
XM_006720245.1:c.545del	XP_006720308.1:p.Leu182ArgfsTer26
XM_011537119.1:c.266del	XP_011535421.1:p.Leu89ArgfsTer26
XR_245790.3:n.2480+974del
XR_944075.1:n.1260-201del
XR_944076.1:n.1255+974del
XR_944077.1:n.1259+974del
XR_944078.1:n.1259+974del
XM_005268037.4:c.545del	XP_005268094.1:p.Leu182ArgfsTer26
XM_011537119.2:c.266del	XP_011535421.1:p.Leu89ArgfsTer26
XR_001751018.2:n.700-201del
XR_001751019.2:n.699+974del
XR_001751020.2:n.699+974del
XR_001751021.1:n.3148-201del
XR_001751022.1:n.3147+974del
XR_001751023.1:n.3280+974del
XR_001751024.2:n.700-201del
XR_944075.3:n.1324-201del
NM_000369.4:c.545del	NP_000360.2:p.Leu182ArgfsTer26
NM_001018036.3:c.545del	NP_001018046.1:p.Leu182ArgfsTer26
NM_001142626.3:c.545del	NP_001136098.1:p.Leu182ArgfsTer26
NM_000369.5:c.545del MANE Select	NP_000360.2:p.Leu182ArgfsTer26