Canonical Allele Identifier: CA1948007335

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167966_2167968delinsCTG , CM000673.2:g.2167966_2167968delinsCTG	GRCh38
NC_000011.9:g.2189196_2189198delinsCTG , CM000673.1:g.2189196_2189198delinsCTG	GRCh37
NC_000011.8:g.2145772_2145774delinsCTG	NCBI36
NG_008128.1:g.8838_8840delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.577-35_577-33delinsCAG MANE Select	ENSP00000325951.4:n.577-35_577-33delinsCAG
ENST00000324155.8:c.*266-35_*266-33delinsCAG	ENSP00000325831.3:n.*266-35_*266-33delinsCAG
ENST00000333684.9:c.577-35_577-33delinsCAG	ENSP00000328814.6:n.577-35_577-33delinsCAG
ENST00000352909.7:c.577-35_577-33delinsCAG	ENSP00000325951.3:n.577-35_577-33delinsCAG
ENST00000381168.7:c.*266-35_*266-33delinsCAG	ENSP00000370560.3:n.*266-35_*266-33delinsCAG
ENST00000381175.5:c.658-35_658-33delinsCAG	ENSP00000370567.1:n.658-35_658-33delinsCAG
ENST00000381178.5:c.670-35_670-33delinsCAG	ENSP00000370571.1:n.670-35_670-33delinsCAG
ENST00000412076.1:c.17-35_17-33delinsCAG
ENST00000416223.5:c.17-35_17-33delinsCAG
ENST00000469226.1:n.326-35_326-33delinsCAG
NM_000360.3:c.577-35_577-33delinsCAG	NP_000351.2:n.577-35_577-33delinsCAG
NM_199292.2:c.670-35_670-33delinsCAG	NP_954986.2:n.670-35_670-33delinsCAG
NM_199293.2:c.658-35_658-33delinsCAG	NP_954987.2:n.658-35_658-33delinsCAG
XM_011520335.1:c.589-35_589-33delinsCAG	XP_011518637.1:n.589-35_589-33delinsCAG
XM_011520335.2:c.589-35_589-33delinsCAG	XP_011518637.1:n.589-35_589-33delinsCAG
NM_000360.4:c.577-35_577-33delinsCAG MANE Select	NP_000351.2:n.577-35_577-33delinsCAG
NM_199292.3:c.670-35_670-33delinsCAG	NP_954986.2:n.670-35_670-33delinsCAG
NM_199293.3:c.658-35_658-33delinsCAG	NP_954987.2:n.658-35_658-33delinsCAG