Canonical Allele Identifier: CA1948006203

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167090_2167091delinsCT , CM000673.2:g.2167090_2167091delinsCT	GRCh38
NC_000011.9:g.2188320_2188321delinsCT , CM000673.1:g.2188320_2188321delinsCT	GRCh37
NC_000011.8:g.2144896_2144897delinsCT	NCBI36
NG_008128.1:g.9715_9716delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-59_696-58delinsAG MANE Select	ENSP00000325951.4:n.696-59_696-58delinsAG
ENST00000324155.8:c.*385-59_*385-58delinsAG	ENSP00000325831.3:n.*385-59_*385-58delinsAG
ENST00000333684.9:c.695+344_695+345delinsAG	ENSP00000328814.6:n.695+344_695+345delinsAG
ENST00000352909.7:c.696-59_696-58delinsAG	ENSP00000325951.3:n.696-59_696-58delinsAG
ENST00000381168.7:c.*416-59_*416-58delinsAG	ENSP00000370560.3:n.*416-59_*416-58delinsAG
ENST00000381175.5:c.777-59_777-58delinsAG	ENSP00000370567.1:n.777-59_777-58delinsAG
ENST00000381178.5:c.789-59_789-58delinsAG	ENSP00000370571.1:n.789-59_789-58delinsAG
ENST00000412076.1:c.135+344_135+345delinsAG
ENST00000416223.5:c.136-323_136-322delinsAG
ENST00000469226.1:n.825-59_825-58delinsAG
ENST00000479437.5:n.186_187delinsAG
NM_000360.3:c.696-59_696-58delinsAG	NP_000351.2:n.696-59_696-58delinsAG
NM_199292.2:c.789-59_789-58delinsAG	NP_954986.2:n.789-59_789-58delinsAG
NM_199293.2:c.777-59_777-58delinsAG	NP_954987.2:n.777-59_777-58delinsAG
XM_011520335.1:c.708-59_708-58delinsAG	XP_011518637.1:n.708-59_708-58delinsAG
XM_011520335.2:c.708-59_708-58delinsAG	XP_011518637.1:n.708-59_708-58delinsAG
NM_000360.4:c.696-59_696-58delinsAG MANE Select	NP_000351.2:n.696-59_696-58delinsAG
NM_199292.3:c.789-59_789-58delinsAG	NP_954986.2:n.789-59_789-58delinsAG
NM_199293.3:c.777-59_777-58delinsAG	NP_954987.2:n.777-59_777-58delinsAG