Canonical Allele Identifier: CA1948005768

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166898_2166899delinsCG , CM000673.2:g.2166898_2166899delinsCG	GRCh38
NC_000011.9:g.2188128_2188129delinsCG , CM000673.1:g.2188128_2188129delinsCG	GRCh37
NC_000011.8:g.2144704_2144705delinsCG	NCBI36
NG_008128.1:g.9907_9908delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.829_830delinsCG MANE Select	ENSP00000325951.4:p.Arg277=
ENST00000324155.8:c.*518_*519delinsCG	ENSP00000325831.3:n.*518_*519delinsCG
ENST00000333684.9:c.696-350_696-349delinsCG	ENSP00000328814.6:n.696-350_696-349delinsCG
ENST00000352909.7:c.829_830delinsCG	ENSP00000325951.3:p.Arg277=
ENST00000381168.7:c.*549_*550delinsCG	ENSP00000370560.3:n.*549_*550delinsCG
ENST00000381175.5:c.910_911delinsCG	ENSP00000370567.1:p.Arg304=
ENST00000381178.5:c.922_923delinsCG	ENSP00000370571.1:p.Arg308=
ENST00000412076.1:c.136-350_136-349delinsCG
ENST00000416223.5:c.136-131_136-130delinsCG
ENST00000469226.1:n.958_959delinsCG
ENST00000479437.5:n.378_379delinsCG
NM_000360.3:c.829_830delinsCG	NP_000351.2:p.Arg277=
NM_199292.2:c.922_923delinsCG	NP_954986.2:p.Arg308=
NM_199293.2:c.910_911delinsCG	NP_954987.2:p.Arg304=
XM_011520335.1:c.841_842delinsCG	XP_011518637.1:p.Arg281=
XM_011520335.2:c.841_842delinsCG	XP_011518637.1:p.Arg281=
NM_000360.4:c.829_830delinsCG MANE Select	NP_000351.2:p.Arg277=
NM_199292.3:c.922_923delinsCG	NP_954986.2:p.Arg308=
NM_199293.3:c.910_911delinsCG	NP_954987.2:p.Arg304=