Canonical Allele Identifier: CA615669731

Gene: TSHR

Linked Data

• dbSNP Id: rs1474099066
• gnomAD v2: 14-81610031-TG-T
• gnomAD v4: 14-81143687-TG-T
• MyVariant Identifiers: chr14:g.81610032del (hg19) ; chr14:g.81143688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143692del , CM000676.2:g.81143692del	GRCh38
NC_000014.8:g.81610036del , CM000676.1:g.81610036del	GRCh37
NC_000014.7:g.80679789del	NCBI36
NG_009206.1:g.193168del , LRG_523:g.193168del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.1634del MANE Select	ENSP00000298171.2:p.Gly545AlafsTer16
ENST00000636454.1:n.1552del
ENST00000637447.1:c.537del
ENST00000298171.6:c.1634del	ENSP00000298171.2:p.Gly545AlafsTer16
ENST00000541158.6:c.1634del	ENSP00000441235.2:p.Gly545AlafsTer16
NM_000369.2:c.1634del , LRG_523t1:c.1634del	NP_000360.2:p.Gly545AlafsTer16
XM_005268037.3:c.1634del	XP_005268094.1:p.Gly545AlafsTer16
XM_011537119.1:c.1355del	XP_011535421.1:p.Gly452AlafsTer16
XR_245790.3:n.2086+21505del
XR_429385.2:n.853+21505del
XR_429386.2:n.854+21505del
XR_944075.1:n.865+21505del
XR_944076.1:n.861+21505del
XR_944077.1:n.865+21505del
XR_944078.1:n.865+21505del
XR_944079.1:n.855+21505del
XM_005268037.4:c.1634del	XP_005268094.1:p.Gly545AlafsTer16
XM_011537119.2:c.1355del	XP_011535421.1:p.Gly452AlafsTer16
XR_001751021.1:n.2753+21505del
XR_001751022.1:n.2753+21505del
XR_001751023.1:n.2753+21505del
XR_944075.3:n.929+21505del
NM_000369.4:c.1634del	NP_000360.2:p.Gly545AlafsTer16
NM_000369.5:c.1634del MANE Select	NP_000360.2:p.Gly545AlafsTer16