Canonical Allele Identifier: CA1948006037

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167003_2167004delinsAG , CM000673.2:g.2167003_2167004delinsAG	GRCh38
NC_000011.9:g.2188233_2188234delinsAG , CM000673.1:g.2188233_2188234delinsAG	GRCh37
NC_000011.8:g.2144809_2144810delinsAG	NCBI36
NG_008128.1:g.9802_9803delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.724_725delinsCT MANE Select	ENSP00000325951.4:p.Leu242=
ENST00000324155.8:c.*413_*414delinsCT	ENSP00000325831.3:n.*413_*414delinsCT
ENST00000333684.9:c.695+431_695+432delinsCT	ENSP00000328814.6:n.695+431_695+432delinsCT
ENST00000352909.7:c.724_725delinsCT	ENSP00000325951.3:p.Leu242=
ENST00000381168.7:c.*444_*445delinsCT	ENSP00000370560.3:n.*444_*445delinsCT
ENST00000381175.5:c.805_806delinsCT	ENSP00000370567.1:p.Leu269=
ENST00000381178.5:c.817_818delinsCT	ENSP00000370571.1:p.Leu273=
ENST00000412076.1:c.135+431_135+432delinsCT
ENST00000416223.5:c.136-236_136-235delinsCT
ENST00000469226.1:n.853_854delinsCT
ENST00000479437.5:n.273_274delinsCT
NM_000360.3:c.724_725delinsCT	NP_000351.2:p.Leu242=
NM_199292.2:c.817_818delinsCT	NP_954986.2:p.Leu273=
NM_199293.2:c.805_806delinsCT	NP_954987.2:p.Leu269=
XM_011520335.1:c.736_737delinsCT	XP_011518637.1:p.Leu246=
XM_011520335.2:c.736_737delinsCT	XP_011518637.1:p.Leu246=
NM_000360.4:c.724_725delinsCT MANE Select	NP_000351.2:p.Leu242=
NM_199292.3:c.817_818delinsCT	NP_954986.2:p.Leu273=
NM_199293.3:c.805_806delinsCT	NP_954987.2:p.Leu269=