Canonical Allele Identifier: CA2150060233

Gene: TSHR

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81068278_81068281delinsGCAG , CM000676.2:g.81068278_81068281delinsGCAG	GRCh38
NC_000014.8:g.81534622_81534625delinsGCAG , CM000676.1:g.81534622_81534625delinsGCAG	GRCh37
NC_000014.7:g.80604375_80604378delinsGCAG	NCBI36
NG_009206.1:g.117754_117757delinsGCAG , LRG_523:g.117754_117757delinsGCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.267_270delinsGCAG MANE Select	ENSP00000298171.2:p.Leu89=
ENST00000298171.6:c.267_270delinsGCAG	ENSP00000298171.2:p.Leu89=
ENST00000342443.10:c.267_270delinsGCAG	ENSP00000340113.6:p.Leu89=
ENST00000541158.6:c.267_270delinsGCAG	ENSP00000441235.2:p.Leu89=
ENST00000553763.1:n.367_370delinsGCAG
ENST00000554263.5:c.267_270delinsGCAG	ENSP00000451202.1:p.Leu89=
ENST00000554435.1:c.267_270delinsGCAG	ENSP00000450549.1:p.Leu89=
ENST00000555326.5:c.267_270delinsGCAG	ENSP00000451092.1:p.Leu89=
NM_000369.2:c.267_270delinsGCAG , LRG_523t1:c.267_270delinsGCAG	NP_000360.2:p.Leu89=
NM_001018036.2:c.267_270delinsGCAG	NP_001018046.1:p.Leu89=
NM_001142626.2:c.267_270delinsGCAG	NP_001136098.1:p.Leu89=
XM_005268037.3:c.267_270delinsGCAG	XP_005268094.1:p.Leu89=
XM_005268039.1:c.267_270delinsGCAG	XP_005268096.1:p.Leu89=
XM_006720245.1:c.267_270delinsGCAG	XP_006720308.1:p.Leu89=
XM_011537119.1:c.-62_-59delinsGCAG	XP_011535421.1:n.-62_-59delinsGCAG
XR_245790.3:n.3676-14465_3676-14462delinsCTGC
XR_944075.1:n.2549-14465_2549-14462delinsCTGC
XR_944076.1:n.1442-14465_1442-14462delinsCTGC
XR_944077.1:n.2455-14465_2455-14462delinsCTGC
XR_944078.1:n.2455-14465_2455-14462delinsCTGC
XM_005268037.4:c.267_270delinsGCAG	XP_005268094.1:p.Leu89=
XM_011537119.2:c.-62_-59delinsGCAG	XP_011535421.1:n.-62_-59delinsGCAG
XR_001751018.2:n.1989-14465_1989-14462delinsCTGC
XR_001751019.2:n.1895-14465_1895-14462delinsCTGC
XR_001751020.2:n.886-14465_886-14462delinsCTGC
XR_001751021.1:n.4437-14465_4437-14462delinsCTGC
XR_001751022.1:n.3334-14465_3334-14462delinsCTGC
XR_001751023.1:n.4476-14465_4476-14462delinsCTGC
XR_001751024.2:n.1989-14465_1989-14462delinsCTGC
XR_944075.3:n.2613-14465_2613-14462delinsCTGC
NM_000369.4:c.267_270delinsGCAG	NP_000360.2:p.Leu89=
NM_001018036.3:c.267_270delinsGCAG	NP_001018046.1:p.Leu89=
NM_001142626.3:c.267_270delinsGCAG	NP_001136098.1:p.Leu89=
NM_000369.5:c.267_270delinsGCAG MANE Select	NP_000360.2:p.Leu89=