Canonical Allele Identifier: CA2625935970

Gene: TSHR

Linked Data

• gnomAD v4: 14-81144574-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144576del , CM000676.2:g.81144576del	GRCh38
NC_000014.8:g.81610920del , CM000676.1:g.81610920del	GRCh37
NC_000014.7:g.80680673del	NCBI36
NG_009206.1:g.194052del , LRG_523:g.194052del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.*223del MANE Select	ENSP00000298171.2:n.*223del
ENST00000637447.1:c.1421del
ENST00000298171.6:c.*223del	ENSP00000298171.2:n.*223del
ENST00000541158.6:c.*223del	ENSP00000441235.2:n.*223del
NM_000369.2:c.*223del , LRG_523t1:c.*223del	NP_000360.2:n.*223del
XM_005268037.3:c.*223del	XP_005268094.1:n.*223del
XM_011537119.1:c.*223del	XP_011535421.1:n.*223del
XR_245790.3:n.2086+20618del
XR_429385.2:n.853+20618del
XR_429386.2:n.854+20618del
XR_944075.1:n.865+20618del
XR_944076.1:n.861+20618del
XR_944077.1:n.865+20618del
XR_944078.1:n.865+20618del
XR_944079.1:n.855+20618del
XM_005268037.4:c.*223del	XP_005268094.1:n.*223del
XM_011537119.2:c.*223del	XP_011535421.1:n.*223del
XR_001751021.1:n.2753+20618del
XR_001751022.1:n.2753+20618del
XR_001751023.1:n.2753+20618del
XR_944075.3:n.929+20618del
NM_000369.4:c.*223del	NP_000360.2:n.*223del
NM_000369.5:c.*223del MANE Select	NP_000360.2:n.*223del