Canonical Allele Identifier: CA7294350

Gene: TSHR

Linked Data

• dbSNP Id: rs780323058
• ExAC: 14:81609251 GCCT / G
• gnomAD v2: 14-81609251-GCCT-G
• MyVariant Identifiers: chr14:g.81609252_81609254del (hg19) ; chr14:g.81142908_81142910del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81142908_81142910del , CM000676.2:g.81142908_81142910del	GRCh38
NC_000014.8:g.81609252_81609254del , CM000676.1:g.81609252_81609254del	GRCh37
NC_000014.7:g.80679005_80679007del	NCBI36
NG_009206.1:g.192384_192386del , LRG_523:g.192384_192386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.882-32_882-30del MANE Select	ENSP00000298171.2:n.882-32_882-30del
ENST00000636454.1:n.800-32_800-30del
ENST00000298171.6:c.882-32_882-30del	ENSP00000298171.2:n.882-32_882-30del
ENST00000541158.6:c.882-32_882-30del	ENSP00000441235.2:n.882-32_882-30del
NM_000369.2:c.882-32_882-30del , LRG_523t1:c.882-32_882-30del	NP_000360.2:n.882-32_882-30del
XM_005268037.3:c.882-32_882-30del	XP_005268094.1:n.882-32_882-30del
XM_011537119.1:c.603-32_603-30del	XP_011535421.1:n.603-32_603-30del
XR_245790.3:n.2086+22283_2086+22285del
XR_429385.2:n.853+22283_853+22285del
XR_429386.2:n.854+22283_854+22285del
XR_944075.1:n.865+22283_865+22285del
XR_944076.1:n.861+22283_861+22285del
XR_944077.1:n.865+22283_865+22285del
XR_944078.1:n.865+22283_865+22285del
XR_944079.1:n.855+22283_855+22285del
XM_005268037.4:c.882-32_882-30del	XP_005268094.1:n.882-32_882-30del
XM_011537119.2:c.603-32_603-30del	XP_011535421.1:n.603-32_603-30del
XR_001751021.1:n.2753+22283_2753+22285del
XR_001751022.1:n.2753+22283_2753+22285del
XR_001751023.1:n.2753+22283_2753+22285del
XR_944075.3:n.929+22283_929+22285del
NM_000369.4:c.882-32_882-30del	NP_000360.2:n.882-32_882-30del
NM_000369.5:c.882-32_882-30del MANE Select	NP_000360.2:n.882-32_882-30del