Canonical Allele Identifier: CA7294583

Gene: TSHR

Linked Data

• dbSNP Id: rs770829896
• ExAC: 14:81610515 GC / G
• gnomAD v4: 14-81144171-GC-G
• MyVariant Identifiers: chr14:g.81610516del (hg19) ; chr14:g.81144172del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144172del , CM000676.2:g.81144172del	GRCh38
NC_000014.8:g.81610516del , CM000676.1:g.81610516del	GRCh37
NC_000014.7:g.80680269del	NCBI36
NG_009206.1:g.193648del , LRG_523:g.193648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2114del MANE Select	ENSP00000298171.2:p.Ala705AspfsTer24
ENST00000637447.1:c.1017del
ENST00000298171.6:c.2114del	ENSP00000298171.2:p.Ala705AspfsTer24
ENST00000541158.6:c.2114del	ENSP00000441235.2:p.Ala705AspfsTer24
NM_000369.2:c.2114del , LRG_523t1:c.2114del	NP_000360.2:p.Ala705AspfsTer24
XM_005268037.3:c.2114del	XP_005268094.1:p.Ala705AspfsTer24
XM_011537119.1:c.1835del	XP_011535421.1:p.Ala612AspfsTer24
XR_245790.3:n.2086+21021del
XR_429385.2:n.853+21021del
XR_429386.2:n.854+21021del
XR_944075.1:n.865+21021del
XR_944076.1:n.861+21021del
XR_944077.1:n.865+21021del
XR_944078.1:n.865+21021del
XR_944079.1:n.855+21021del
XM_005268037.4:c.2114del	XP_005268094.1:p.Ala705AspfsTer24
XM_011537119.2:c.1835del	XP_011535421.1:p.Ala612AspfsTer24
XR_001751021.1:n.2753+21021del
XR_001751022.1:n.2753+21021del
XR_001751023.1:n.2753+21021del
XR_944075.3:n.929+21021del
NM_000369.4:c.2114del	NP_000360.2:p.Ala705AspfsTer24
NM_000369.5:c.2114del MANE Select	NP_000360.2:p.Ala705AspfsTer24