Canonical Allele Identifier: CA2625936088

Gene: TSHR

Linked Data

• gnomAD v4: 14-81144613-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144613_81144614insC , CM000676.2:g.81144613_81144614insC	GRCh38
NC_000014.8:g.81610957_81610958insC , CM000676.1:g.81610957_81610958insC	GRCh37
NC_000014.7:g.80680710_80680711insC	NCBI36
NG_009206.1:g.194089_194090insC , LRG_523:g.194089_194090insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.*260_*261insC MANE Select	ENSP00000298171.2:n.*260_*261insC
ENST00000637447.1:c.1458_1459insC
ENST00000298171.6:c.*260_*261insC	ENSP00000298171.2:n.*260_*261insC
ENST00000541158.6:c.*260_*261insC	ENSP00000441235.2:n.*260_*261insC
NM_000369.2:c.*260_*261insC , LRG_523t1:c.*260_*261insC	NP_000360.2:n.*260_*261insC
XM_005268037.3:c.*260_*261insC	XP_005268094.1:n.*260_*261insC
XM_011537119.1:c.*260_*261insC	XP_011535421.1:n.*260_*261insC
XR_245790.3:n.2086+20579_2086+20580insG
XR_429385.2:n.853+20579_853+20580insG
XR_429386.2:n.854+20579_854+20580insG
XR_944075.1:n.865+20579_865+20580insG
XR_944076.1:n.861+20579_861+20580insG
XR_944077.1:n.865+20579_865+20580insG
XR_944078.1:n.865+20579_865+20580insG
XR_944079.1:n.855+20579_855+20580insG
XM_005268037.4:c.*260_*261insC	XP_005268094.1:n.*260_*261insC
XM_011537119.2:c.*260_*261insC	XP_011535421.1:n.*260_*261insC
XR_001751021.1:n.2753+20579_2753+20580insG
XR_001751022.1:n.2753+20579_2753+20580insG
XR_001751023.1:n.2753+20579_2753+20580insG
XR_944075.3:n.929+20579_929+20580insG
NM_000369.4:c.*260_*261insC	NP_000360.2:n.*260_*261insC
NM_000369.5:c.*260_*261insC MANE Select	NP_000360.2:n.*260_*261insC