Canonical Allele Identifier: CA2580082587

Gene: TH

Linked Data

• ClinVar Variation Id: 2434146
• ClinVar RCV Id: RCV003132891

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166949del , CM000673.2:g.2166949del	GRCh38
NC_000011.9:g.2188179del , CM000673.1:g.2188179del	GRCh37
NC_000011.8:g.2144755del	NCBI36
NG_008128.1:g.9857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.779del MANE Select	ENSP00000325951.4:p.Arg260ProfsTer20
ENST00000324155.8:c.*468del	ENSP00000325831.3:n.*468del
ENST00000333684.9:c.696-400del	ENSP00000328814.6:n.696-400del
ENST00000352909.7:c.779del	ENSP00000325951.3:p.Arg260ProfsTer20
ENST00000381168.7:c.*499del	ENSP00000370560.3:n.*499del
ENST00000381175.5:c.860del	ENSP00000370567.1:p.Arg287ProfsTer20
ENST00000381178.5:c.872del	ENSP00000370571.1:p.Arg291ProfsTer20
ENST00000412076.1:c.136-400del
ENST00000416223.5:c.136-181del
ENST00000469226.1:n.908del
ENST00000479437.5:n.328del
NM_000360.3:c.779del	NP_000351.2:p.Arg260ProfsTer20
NM_199292.2:c.872del	NP_954986.2:p.Arg291ProfsTer20
NM_199293.2:c.860del	NP_954987.2:p.Arg287ProfsTer20
XM_011520335.1:c.791del	XP_011518637.1:p.Arg264ProfsTer20
XM_011520335.2:c.791del	XP_011518637.1:p.Arg264ProfsTer20
NM_000360.4:c.779del MANE Select	NP_000351.2:p.Arg260ProfsTer20
NM_199292.3:c.872del	NP_954986.2:p.Arg291ProfsTer20
NM_199293.3:c.860del	NP_954987.2:p.Arg287ProfsTer20