Canonical Allele Identifier: CA2499220856

Gene: TH

Linked Data

• ClinVar Variation Id: 1128441
• ClinVar RCV Id: RCV001461199
• dbSNP Id: rs2133693922

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167039_2167040delinsAG , CM000673.2:g.2167039_2167040delinsAG	GRCh38
NC_000011.9:g.2188269_2188270delinsAG , CM000673.1:g.2188269_2188270delinsAG	GRCh37
NC_000011.8:g.2144845_2144846delinsAG	NCBI36
NG_008128.1:g.9766_9767delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-8_696-7delinsCT MANE Select	ENSP00000325951.4:n.696-8_696-7delinsCT
ENST00000324155.8:c.*385-8_*385-7delinsCT	ENSP00000325831.3:n.*385-8_*385-7delinsCT
ENST00000333684.9:c.695+395_695+396delinsCT	ENSP00000328814.6:n.695+395_695+396delinsCT
ENST00000352909.7:c.696-8_696-7delinsCT	ENSP00000325951.3:n.696-8_696-7delinsCT
ENST00000381168.7:c.*416-8_*416-7delinsCT	ENSP00000370560.3:n.*416-8_*416-7delinsCT
ENST00000381175.5:c.777-8_777-7delinsCT	ENSP00000370567.1:n.777-8_777-7delinsCT
ENST00000381178.5:c.789-8_789-7delinsCT	ENSP00000370571.1:n.789-8_789-7delinsCT
ENST00000412076.1:c.135+395_135+396delinsCT
ENST00000416223.5:c.136-272_136-271delinsCT
ENST00000469226.1:n.825-8_825-7delinsCT
ENST00000479437.5:n.237_238delinsCT
NM_000360.3:c.696-8_696-7delinsCT	NP_000351.2:n.696-8_696-7delinsCT
NM_199292.2:c.789-8_789-7delinsCT	NP_954986.2:n.789-8_789-7delinsCT
NM_199293.2:c.777-8_777-7delinsCT	NP_954987.2:n.777-8_777-7delinsCT
XM_011520335.1:c.708-8_708-7delinsCT	XP_011518637.1:n.708-8_708-7delinsCT
XM_011520335.2:c.708-8_708-7delinsCT	XP_011518637.1:n.708-8_708-7delinsCT
NM_000360.4:c.696-8_696-7delinsCT MANE Select	NP_000351.2:n.696-8_696-7delinsCT
NM_199292.3:c.789-8_789-7delinsCT	NP_954986.2:n.789-8_789-7delinsCT
NM_199293.3:c.777-8_777-7delinsCT	NP_954987.2:n.777-8_777-7delinsCT