Canonical Allele Identifier: CA2625935471

Gene: TSHR

Linked Data

• gnomAD v4: 14-81143499-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143499_81143500insG , CM000676.2:g.81143499_81143500insG	GRCh38
NC_000014.8:g.81609843_81609844insG , CM000676.1:g.81609843_81609844insG	GRCh37
NC_000014.7:g.80679596_80679597insG	NCBI36
NG_009206.1:g.192975_192976insG , LRG_523:g.192975_192976insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1441_1442insG MANE Select	ENSP00000298171.2:p.Tyr481Ter
ENST00000636454.1:n.1359_1360insG
ENST00000637447.1:c.344_345insG
ENST00000298171.6:c.1441_1442insG	ENSP00000298171.2:p.Tyr481Ter
ENST00000541158.6:c.1441_1442insG	ENSP00000441235.2:p.Tyr481Ter
NM_000369.2:c.1441_1442insG , LRG_523t1:c.1441_1442insG	NP_000360.2:p.Tyr481Ter
XM_005268037.3:c.1441_1442insG	XP_005268094.1:p.Tyr481Ter
XM_011537119.1:c.1162_1163insG	XP_011535421.1:p.Tyr388Ter
XR_245790.3:n.2086+21693_2086+21694insC
XR_429385.2:n.853+21693_853+21694insC
XR_429386.2:n.854+21693_854+21694insC
XR_944075.1:n.865+21693_865+21694insC
XR_944076.1:n.861+21693_861+21694insC
XR_944077.1:n.865+21693_865+21694insC
XR_944078.1:n.865+21693_865+21694insC
XR_944079.1:n.855+21693_855+21694insC
XM_005268037.4:c.1441_1442insG	XP_005268094.1:p.Tyr481Ter
XM_011537119.2:c.1162_1163insG	XP_011535421.1:p.Tyr388Ter
XR_001751021.1:n.2753+21693_2753+21694insC
XR_001751022.1:n.2753+21693_2753+21694insC
XR_001751023.1:n.2753+21693_2753+21694insC
XR_944075.3:n.929+21693_929+21694insC
NM_000369.4:c.1441_1442insG	NP_000360.2:p.Tyr481Ter
NM_000369.5:c.1441_1442insG MANE Select	NP_000360.2:p.Tyr481Ter