Canonical Allele Identifier: CA2802333442

Gene: TSHR

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143921_81143922insCAC , CM000676.2:g.81143921_81143922insCAC	GRCh38
NC_000014.8:g.81610265_81610266insCAC , CM000676.1:g.81610265_81610266insCAC	GRCh37
NC_000014.7:g.80680018_80680019insCAC	NCBI36
NG_009206.1:g.193397_193398insCAC , LRG_523:g.193397_193398insCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1863_1864insCAC MANE Select	ENSP00000298171.2:p.Lys621_Ile622insHis
ENST00000637447.1:c.766_767insCAC
ENST00000298171.6:c.1863_1864insCAC	ENSP00000298171.2:p.Lys621_Ile622insHis
ENST00000541158.6:c.1863_1864insCAC	ENSP00000441235.2:p.Lys621_Ile622insHis
NM_000369.2:c.1863_1864insCAC , LRG_523t1:c.1863_1864insCAC	NP_000360.2:p.Lys621_Ile622insHis
XM_005268037.3:c.1863_1864insCAC	XP_005268094.1:p.Lys621_Ile622insHis
XM_011537119.1:c.1584_1585insCAC	XP_011535421.1:p.Lys528_Ile529insHis
XR_245790.3:n.2086+21271_2086+21272insGTG
XR_429385.2:n.853+21271_853+21272insGTG
XR_429386.2:n.854+21271_854+21272insGTG
XR_944075.1:n.865+21271_865+21272insGTG
XR_944076.1:n.861+21271_861+21272insGTG
XR_944077.1:n.865+21271_865+21272insGTG
XR_944078.1:n.865+21271_865+21272insGTG
XR_944079.1:n.855+21271_855+21272insGTG
XM_005268037.4:c.1863_1864insCAC	XP_005268094.1:p.Lys621_Ile622insHis
XM_011537119.2:c.1584_1585insCAC	XP_011535421.1:p.Lys528_Ile529insHis
XR_001751021.1:n.2753+21271_2753+21272insGTG
XR_001751022.1:n.2753+21271_2753+21272insGTG
XR_001751023.1:n.2753+21271_2753+21272insGTG
XR_944075.3:n.929+21271_929+21272insGTG
NM_000369.4:c.1863_1864insCAC	NP_000360.2:p.Lys621_Ile622insHis
NM_000369.5:c.1863_1864insCAC MANE Select	NP_000360.2:p.Lys621_Ile622insHis