Canonical Allele Identifier: CA2625935999

Gene: TSHR

Linked Data

• gnomAD v4: 14-81144588-AAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144592_81144594del , CM000676.2:g.81144592_81144594del	GRCh38
NC_000014.8:g.81610936_81610938del , CM000676.1:g.81610936_81610938del	GRCh37
NC_000014.7:g.80680689_80680691del	NCBI36
NG_009206.1:g.194068_194070del , LRG_523:g.194068_194070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.*239_*241del MANE Select	ENSP00000298171.2:n.*239_*241del
ENST00000637447.1:c.1437_1439del
ENST00000298171.6:c.*239_*241del	ENSP00000298171.2:n.*239_*241del
ENST00000541158.6:c.*239_*241del	ENSP00000441235.2:n.*239_*241del
NM_000369.2:c.*239_*241del , LRG_523t1:c.*239_*241del	NP_000360.2:n.*239_*241del
XM_005268037.3:c.*239_*241del	XP_005268094.1:n.*239_*241del
XM_011537119.1:c.*239_*241del	XP_011535421.1:n.*239_*241del
XR_245790.3:n.2086+20602_2086+20604del
XR_429385.2:n.853+20602_853+20604del
XR_429386.2:n.854+20602_854+20604del
XR_944075.1:n.865+20602_865+20604del
XR_944076.1:n.861+20602_861+20604del
XR_944077.1:n.865+20602_865+20604del
XR_944078.1:n.865+20602_865+20604del
XR_944079.1:n.855+20602_855+20604del
XM_005268037.4:c.*239_*241del	XP_005268094.1:n.*239_*241del
XM_011537119.2:c.*239_*241del	XP_011535421.1:n.*239_*241del
XR_001751021.1:n.2753+20602_2753+20604del
XR_001751022.1:n.2753+20602_2753+20604del
XR_001751023.1:n.2753+20602_2753+20604del
XR_944075.3:n.929+20602_929+20604del
NM_000369.4:c.*239_*241del	NP_000360.2:n.*239_*241del
NM_000369.5:c.*239_*241del MANE Select	NP_000360.2:n.*239_*241del