Canonical Allele Identifier: CA1948011709
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171535_2171536delinsGA , CM000673.2:g.2171535_2171536delinsGA GRCh38
NC_000011.9:g.2192765_2192766delinsGA , CM000673.1:g.2192765_2192766delinsGA GRCh37
NC_000011.8:g.2149341_2149342delinsGA NCBI36
NG_008128.1:g.5270_5271delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.90+161_90+162delinsTC MANE Select ENSP00000325951.4:n.90+161_90+162delinsTC
ENST00000324155.8:c.90+161_90+162delinsTC ENSP00000325831.3:n.90+161_90+162delinsTC
ENST00000333684.9:c.90+161_90+162delinsTC ENSP00000328814.6:n.90+161_90+162delinsTC
ENST00000352909.7:c.90+161_90+162delinsTC ENSP00000325951.3:n.90+161_90+162delinsTC
ENST00000381168.7:c.102+149_102+150delinsTC ENSP00000370560.3:n.102+149_102+150delinsTC
ENST00000381175.5:c.90+161_90+162delinsTC ENSP00000370567.1:n.90+161_90+162delinsTC
ENST00000381178.5:c.102+149_102+150delinsTC ENSP00000370571.1:n.102+149_102+150delinsTC
NM_000360.3:c.90+161_90+162delinsTC NP_000351.2:n.90+161_90+162delinsTC
NM_199292.2:c.102+149_102+150delinsTC NP_954986.2:n.102+149_102+150delinsTC
NM_199293.2:c.90+161_90+162delinsTC NP_954987.2:n.90+161_90+162delinsTC
XM_011520335.1:c.102+149_102+150delinsTC XP_011518637.1:n.102+149_102+150delinsTC
XM_011520335.2:c.102+149_102+150delinsTC XP_011518637.1:n.102+149_102+150delinsTC
NM_000360.4:c.90+161_90+162delinsTC MANE Select NP_000351.2:n.90+161_90+162delinsTC
NM_199292.3:c.102+149_102+150delinsTC NP_954986.2:n.102+149_102+150delinsTC
NM_199293.3:c.90+161_90+162delinsTC NP_954987.2:n.90+161_90+162delinsTC