Canonical Allele Identifier: CA1948006135
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2167054_2167055delinsGC , CM000673.2:g.2167054_2167055delinsGC GRCh38
NC_000011.9:g.2188284_2188285delinsGC , CM000673.1:g.2188284_2188285delinsGC GRCh37
NC_000011.8:g.2144860_2144861delinsGC NCBI36
NG_008128.1:g.9751_9752delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.696-23_696-22delinsGC MANE Select ENSP00000325951.4:n.696-23_696-22delinsGC
ENST00000324155.8:c.*385-23_*385-22delinsGC ENSP00000325831.3:n.*385-23_*385-22delinsGC
ENST00000333684.9:c.695+380_695+381delinsGC ENSP00000328814.6:n.695+380_695+381delinsGC
ENST00000352909.7:c.696-23_696-22delinsGC ENSP00000325951.3:n.696-23_696-22delinsGC
ENST00000381168.7:c.*416-23_*416-22delinsGC ENSP00000370560.3:n.*416-23_*416-22delinsGC
ENST00000381175.5:c.777-23_777-22delinsGC ENSP00000370567.1:n.777-23_777-22delinsGC
ENST00000381178.5:c.789-23_789-22delinsGC ENSP00000370571.1:n.789-23_789-22delinsGC
ENST00000412076.1:c.135+380_135+381delinsGC
ENST00000416223.5:c.136-287_136-286delinsGC
ENST00000469226.1:n.825-23_825-22delinsGC
ENST00000479437.5:n.222_223delinsGC
NM_000360.3:c.696-23_696-22delinsGC NP_000351.2:n.696-23_696-22delinsGC
NM_199292.2:c.789-23_789-22delinsGC NP_954986.2:n.789-23_789-22delinsGC
NM_199293.2:c.777-23_777-22delinsGC NP_954987.2:n.777-23_777-22delinsGC
XM_011520335.1:c.708-23_708-22delinsGC XP_011518637.1:n.708-23_708-22delinsGC
XM_011520335.2:c.708-23_708-22delinsGC XP_011518637.1:n.708-23_708-22delinsGC
NM_000360.4:c.696-23_696-22delinsGC MANE Select NP_000351.2:n.696-23_696-22delinsGC
NM_199292.3:c.789-23_789-22delinsGC NP_954986.2:n.789-23_789-22delinsGC
NM_199293.3:c.777-23_777-22delinsGC NP_954987.2:n.777-23_777-22delinsGC