Canonical Allele Identifier: CA1948006071

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167012_2167014delinsAGC , CM000673.2:g.2167012_2167014delinsAGC	GRCh38
NC_000011.9:g.2188242_2188244delinsAGC , CM000673.1:g.2188242_2188244delinsAGC	GRCh37
NC_000011.8:g.2144818_2144820delinsAGC	NCBI36
NG_008128.1:g.9792_9794delinsGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.714_716delinsGCT MANE Select	ENSP00000325951.4:p.Thr238=
ENST00000324155.8:c.*403_*405delinsGCT	ENSP00000325831.3:n.*403_*405delinsGCT
ENST00000333684.9:c.695+421_695+423delinsGCT	ENSP00000328814.6:n.695+421_695+423delinsGCT
ENST00000352909.7:c.714_716delinsGCT	ENSP00000325951.3:p.Thr238=
ENST00000381168.7:c.*434_*436delinsGCT	ENSP00000370560.3:n.*434_*436delinsGCT
ENST00000381175.5:c.795_797delinsGCT	ENSP00000370567.1:p.Thr265=
ENST00000381178.5:c.807_809delinsGCT	ENSP00000370571.1:p.Thr269=
ENST00000412076.1:c.135+421_135+423delinsGCT
ENST00000416223.5:c.136-246_136-244delinsGCT
ENST00000469226.1:n.843_845delinsGCT
ENST00000479437.5:n.263_265delinsGCT
NM_000360.3:c.714_716delinsGCT	NP_000351.2:p.Thr238=
NM_199292.2:c.807_809delinsGCT	NP_954986.2:p.Thr269=
NM_199293.2:c.795_797delinsGCT	NP_954987.2:p.Thr265=
XM_011520335.1:c.726_728delinsGCT	XP_011518637.1:p.Thr242=
XM_011520335.2:c.726_728delinsGCT	XP_011518637.1:p.Thr242=
NM_000360.4:c.714_716delinsGCT MANE Select	NP_000351.2:p.Thr238=
NM_199292.3:c.807_809delinsGCT	NP_954986.2:p.Thr269=
NM_199293.3:c.795_797delinsGCT	NP_954987.2:p.Thr265=