Canonical Allele Identifier: CA2580082589

Gene: TH

Linked Data

• ClinVar Variation Id: 2033133
• ClinVar RCV Id: RCV002881694

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166950del , CM000673.2:g.2166950del	GRCh38
NC_000011.9:g.2188180del , CM000673.1:g.2188180del	GRCh37
NC_000011.8:g.2144756del	NCBI36
NG_008128.1:g.9856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.778del MANE Select	ENSP00000325951.4:p.Arg260AlafsTer20
ENST00000324155.8:c.*467del	ENSP00000325831.3:n.*467del
ENST00000333684.9:c.696-401del	ENSP00000328814.6:n.696-401del
ENST00000352909.7:c.778del	ENSP00000325951.3:p.Arg260AlafsTer20
ENST00000381168.7:c.*498del	ENSP00000370560.3:n.*498del
ENST00000381175.5:c.859del	ENSP00000370567.1:p.Arg287AlafsTer20
ENST00000381178.5:c.871del	ENSP00000370571.1:p.Arg291AlafsTer20
ENST00000412076.1:c.136-401del
ENST00000416223.5:c.136-182del
ENST00000469226.1:n.907del
ENST00000479437.5:n.327del
NM_000360.3:c.778del	NP_000351.2:p.Arg260AlafsTer20
NM_199292.2:c.871del	NP_954986.2:p.Arg291AlafsTer20
NM_199293.2:c.859del	NP_954987.2:p.Arg287AlafsTer20
XM_011520335.1:c.790del	XP_011518637.1:p.Arg264AlafsTer20
XM_011520335.2:c.790del	XP_011518637.1:p.Arg264AlafsTer20
NM_000360.4:c.778del MANE Select	NP_000351.2:p.Arg260AlafsTer20
NM_199292.3:c.871del	NP_954986.2:p.Arg291AlafsTer20
NM_199293.3:c.859del	NP_954987.2:p.Arg287AlafsTer20