Canonical Allele Identifier: CA2580082662

Gene: TH

Linked Data

• ClinVar Variation Id: 1725190
• ClinVar RCV Id: RCV002308249

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166888_2166889insGG , CM000673.2:g.2166888_2166889insGG	GRCh38
NC_000011.9:g.2188118_2188119insGG , CM000673.1:g.2188118_2188119insGG	GRCh37
NC_000011.8:g.2144694_2144695insGG	NCBI36
NG_008128.1:g.9917_9918insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.839_840insCC MANE Select	ENSP00000325951.4:p.Lys280AsnfsTer?
ENST00000324155.8:c.*528_*529insCC	ENSP00000325831.3:n.*528_*529insCC
ENST00000333684.9:c.696-340_696-339insCC	ENSP00000328814.6:n.696-340_696-339insCC
ENST00000352909.7:c.839_840insCC	ENSP00000325951.3:p.Lys280AsnfsTer?
ENST00000381168.7:c.*559_*560insCC	ENSP00000370560.3:n.*559_*560insCC
ENST00000381175.5:c.920_921insCC	ENSP00000370567.1:p.Lys307AsnfsTer?
ENST00000381178.5:c.932_933insCC	ENSP00000370571.1:p.Lys311AsnfsTer?
ENST00000412076.1:c.136-340_136-339insCC
ENST00000416223.5:c.136-121_136-120insCC
ENST00000479437.5:n.388_389insCC
NM_000360.3:c.839_840insCC	NP_000351.2:p.Lys280AsnfsTer?
NM_199292.2:c.932_933insCC	NP_954986.2:p.Lys311AsnfsTer?
NM_199293.2:c.920_921insCC	NP_954987.2:p.Lys307AsnfsTer?
XM_011520335.1:c.851_852insCC	XP_011518637.1:p.Lys284AsnfsTer?
XM_011520335.2:c.851_852insCC	XP_011518637.1:p.Lys284AsnfsTer?
NM_000360.4:c.839_840insCC MANE Select	NP_000351.2:p.Lys280AsnfsTer?
NM_199292.3:c.932_933insCC	NP_954986.2:p.Lys311AsnfsTer?
NM_199293.3:c.920_921insCC	NP_954987.2:p.Lys307AsnfsTer?