Canonical Allele Identifier: CA1948012117
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171763_2171765delinsCGT , CM000673.2:g.2171763_2171765delinsCGT GRCh38
NC_000011.9:g.2192993_2192995delinsCGT , CM000673.1:g.2192993_2192995delinsCGT GRCh37
NC_000011.8:g.2149569_2149571delinsCGT NCBI36
NG_008128.1:g.5041_5043delinsACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.22_24delinsACG MANE Select ENSP00000325951.4:p.Thr8=
ENST00000324155.8:c.22_24delinsACG ENSP00000325831.3:p.Thr8=
ENST00000333684.9:c.22_24delinsACG ENSP00000328814.6:p.Thr8=
ENST00000352909.7:c.22_24delinsACG ENSP00000325951.3:p.Thr8=
ENST00000381168.7:c.22_24delinsACG ENSP00000370560.3:p.Thr8=
ENST00000381175.5:c.22_24delinsACG ENSP00000370567.1:p.Thr8=
ENST00000381178.5:c.22_24delinsACG ENSP00000370571.1:p.Thr8=
NM_000360.3:c.22_24delinsACG NP_000351.2:p.Thr8=
NM_199292.2:c.22_24delinsACG NP_954986.2:p.Thr8=
NM_199293.2:c.22_24delinsACG NP_954987.2:p.Thr8=
XM_011520335.1:c.22_24delinsACG XP_011518637.1:p.Thr8=
XM_011520335.2:c.22_24delinsACG XP_011518637.1:p.Thr8=
NM_000360.4:c.22_24delinsACG MANE Select NP_000351.2:p.Thr8=
NM_199292.3:c.22_24delinsACG NP_954986.2:p.Thr8=
NM_199293.3:c.22_24delinsACG NP_954987.2:p.Thr8=