Canonical Allele Identifier: CA2580082591

Gene: TH

Linked Data

• ClinVar Variation Id: 2114831
• ClinVar RCV Id: RCV003032358

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166985_2166989dup , CM000673.2:g.2166985_2166989dup	GRCh38
NC_000011.9:g.2188215_2188219dup , CM000673.1:g.2188215_2188219dup	GRCh37
NC_000011.8:g.2144791_2144795dup	NCBI36
NG_008128.1:g.9817_9821dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.739_743dup MANE Select	ENSP00000325951.4:p.Cys248TrpfsTer?
ENST00000324155.8:c.*428_*432dup	ENSP00000325831.3:n.*428_*432dup
ENST00000333684.9:c.696-440_696-436dup	ENSP00000328814.6:n.696-440_696-436dup
ENST00000352909.7:c.739_743dup	ENSP00000325951.3:p.Cys248TrpfsTer?
ENST00000381168.7:c.*459_*463dup	ENSP00000370560.3:n.*459_*463dup
ENST00000381175.5:c.820_824dup	ENSP00000370567.1:p.Cys275TrpfsTer?
ENST00000381178.5:c.832_836dup	ENSP00000370571.1:p.Cys279TrpfsTer?
ENST00000412076.1:c.136-440_136-436dup
ENST00000416223.5:c.136-221_136-217dup
ENST00000469226.1:n.868_872dup
ENST00000479437.5:n.288_292dup
NM_000360.3:c.739_743dup	NP_000351.2:p.Cys248TrpfsTer?
NM_199292.2:c.832_836dup	NP_954986.2:p.Cys279TrpfsTer?
NM_199293.2:c.820_824dup	NP_954987.2:p.Cys275TrpfsTer?
XM_011520335.1:c.751_755dup	XP_011518637.1:p.Cys252TrpfsTer?
XM_011520335.2:c.751_755dup	XP_011518637.1:p.Cys252TrpfsTer?
NM_000360.4:c.739_743dup MANE Select	NP_000351.2:p.Cys248TrpfsTer?
NM_199292.3:c.832_836dup	NP_954986.2:p.Cys279TrpfsTer?
NM_199293.3:c.820_824dup	NP_954987.2:p.Cys275TrpfsTer?