Canonical Allele Identifier: CA1948012082

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171749_2171752delinsCCCT , CM000673.2:g.2171749_2171752delinsCCCT	GRCh38
NC_000011.9:g.2192979_2192982delinsCCCT , CM000673.1:g.2192979_2192982delinsCCCT	GRCh37
NC_000011.8:g.2149555_2149558delinsCCCT	NCBI36
NG_008128.1:g.5054_5057delinsAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.35_38delinsAGGG MANE Select	ENSP00000325951.4:p.Lys12=
ENST00000324155.8:c.35_38delinsAGGG	ENSP00000325831.3:p.Lys12=
ENST00000333684.9:c.35_38delinsAGGG	ENSP00000328814.6:p.Lys12=
ENST00000352909.7:c.35_38delinsAGGG	ENSP00000325951.3:p.Lys12=
ENST00000381168.7:c.35_38delinsAGGG	ENSP00000370560.3:p.Lys12=
ENST00000381175.5:c.35_38delinsAGGG	ENSP00000370567.1:p.Lys12=
ENST00000381178.5:c.35_38delinsAGGG	ENSP00000370571.1:p.Lys12=
NM_000360.3:c.35_38delinsAGGG	NP_000351.2:p.Lys12=
NM_199292.2:c.35_38delinsAGGG	NP_954986.2:p.Lys12=
NM_199293.2:c.35_38delinsAGGG	NP_954987.2:p.Lys12=
XM_011520335.1:c.35_38delinsAGGG	XP_011518637.1:p.Lys12=
XM_011520335.2:c.35_38delinsAGGG	XP_011518637.1:p.Lys12=
NM_000360.4:c.35_38delinsAGGG MANE Select	NP_000351.2:p.Lys12=
NM_199292.3:c.35_38delinsAGGG	NP_954986.2:p.Lys12=
NM_199293.3:c.35_38delinsAGGG	NP_954987.2:p.Lys12=