Canonical Allele Identifier: CA2625933666

Gene: TSHR

Linked Data

• gnomAD v4: 14-81142948-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81142949_81142950del , CM000676.2:g.81142949_81142950del	GRCh38
NC_000014.8:g.81609293_81609294del , CM000676.1:g.81609293_81609294del	GRCh37
NC_000014.7:g.80679046_80679047del	NCBI36
NG_009206.1:g.192425_192426del , LRG_523:g.192425_192426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.891_892del MANE Select	ENSP00000298171.2:p.Glu297AspfsTer5
ENST00000636454.1:n.809_810del
ENST00000298171.6:c.891_892del	ENSP00000298171.2:p.Glu297AspfsTer5
ENST00000541158.6:c.891_892del	ENSP00000441235.2:p.Glu297AspfsTer5
NM_000369.2:c.891_892del , LRG_523t1:c.891_892del	NP_000360.2:p.Glu297AspfsTer5
XM_005268037.3:c.891_892del	XP_005268094.1:p.Glu297AspfsTer5
XM_011537119.1:c.612_613del	XP_011535421.1:p.Glu204AspfsTer5
XR_245790.3:n.2086+22243_2086+22244del
XR_429385.2:n.853+22243_853+22244del
XR_429386.2:n.854+22243_854+22244del
XR_944075.1:n.865+22243_865+22244del
XR_944076.1:n.861+22243_861+22244del
XR_944077.1:n.865+22243_865+22244del
XR_944078.1:n.865+22243_865+22244del
XR_944079.1:n.855+22243_855+22244del
XM_005268037.4:c.891_892del	XP_005268094.1:p.Glu297AspfsTer5
XM_011537119.2:c.612_613del	XP_011535421.1:p.Glu204AspfsTer5
XR_001751021.1:n.2753+22243_2753+22244del
XR_001751022.1:n.2753+22243_2753+22244del
XR_001751023.1:n.2753+22243_2753+22244del
XR_944075.3:n.929+22243_929+22244del
NM_000369.4:c.891_892del	NP_000360.2:p.Glu297AspfsTer5
NM_000369.5:c.891_892del MANE Select	NP_000360.2:p.Glu297AspfsTer5