Canonical Allele Identifier: CA2580082663

Gene: TH

Linked Data

• ClinVar Variation Id: 2025524
• ClinVar RCV Id: RCV002853217

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166891del , CM000673.2:g.2166891del	GRCh38
NC_000011.9:g.2188121del , CM000673.1:g.2188121del	GRCh37
NC_000011.8:g.2144697del	NCBI36
NG_008128.1:g.9915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.837del MANE Select	ENSP00000325951.4:p.Lys280ArgfsTer?
ENST00000324155.8:c.*526del	ENSP00000325831.3:n.*526del
ENST00000333684.9:c.696-342del	ENSP00000328814.6:n.696-342del
ENST00000352909.7:c.837del	ENSP00000325951.3:p.Lys280ArgfsTer?
ENST00000381168.7:c.*557del	ENSP00000370560.3:n.*557del
ENST00000381175.5:c.918del	ENSP00000370567.1:p.Lys307ArgfsTer?
ENST00000381178.5:c.930del	ENSP00000370571.1:p.Lys311ArgfsTer?
ENST00000412076.1:c.136-342del
ENST00000416223.5:c.136-123del
ENST00000479437.5:n.386del
NM_000360.3:c.837del	NP_000351.2:p.Lys280ArgfsTer?
NM_199292.2:c.930del	NP_954986.2:p.Lys311ArgfsTer?
NM_199293.2:c.918del	NP_954987.2:p.Lys307ArgfsTer?
XM_011520335.1:c.849del	XP_011518637.1:p.Lys284ArgfsTer?
XM_011520335.2:c.849del	XP_011518637.1:p.Lys284ArgfsTer?
NM_000360.4:c.837del MANE Select	NP_000351.2:p.Lys280ArgfsTer?
NM_199292.3:c.930del	NP_954986.2:p.Lys311ArgfsTer?
NM_199293.3:c.918del	NP_954987.2:p.Lys307ArgfsTer?