Canonical Allele Identifier: CA1948009611
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169758_2169759delinsCA , CM000673.2:g.2169758_2169759delinsCA GRCh38
NC_000011.9:g.2190988_2190989delinsCA , CM000673.1:g.2190988_2190989delinsCA GRCh37
NC_000011.8:g.2147564_2147565delinsCA NCBI36
NG_008128.1:g.7047_7048delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.203_204delinsTG MANE Select ENSP00000325951.4:p.Leu68=
ENST00000324155.8:c.91-64_91-63delinsTG ENSP00000325831.3:n.91-64_91-63delinsTG
ENST00000333684.9:c.203_204delinsTG ENSP00000328814.6:p.Leu68=
ENST00000352909.7:c.203_204delinsTG ENSP00000325951.3:p.Leu68=
ENST00000381168.7:c.103-64_103-63delinsTG ENSP00000370560.3:n.103-64_103-63delinsTG...
ENST00000381175.5:c.284_285delinsTG ENSP00000370567.1:p.Leu95=
ENST00000381178.5:c.296_297delinsTG ENSP00000370571.1:p.Leu99=
NM_000360.3:c.203_204delinsTG NP_000351.2:p.Leu68=
NM_199292.2:c.296_297delinsTG NP_954986.2:p.Leu99=
NM_199293.2:c.284_285delinsTG NP_954987.2:p.Leu95=
XM_011520335.1:c.215_216delinsTG XP_011518637.1:p.Leu72=
XM_011520335.2:c.215_216delinsTG XP_011518637.1:p.Leu72=
NM_000360.4:c.203_204delinsTG MANE Select NP_000351.2:p.Leu68=
NM_199292.3:c.296_297delinsTG NP_954986.2:p.Leu99=
NM_199293.3:c.284_285delinsTG NP_954987.2:p.Leu95=