Canonical Allele Identifier: CA2580082590

Gene: TH

Linked Data

• ClinVar Variation Id: 1724162
• ClinVar RCV Id: RCV002306717
• gnomAD v4: 11-2166979-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166983del , CM000673.2:g.2166983del	GRCh38
NC_000011.9:g.2188213del , CM000673.1:g.2188213del	GRCh37
NC_000011.8:g.2144789del	NCBI36
NG_008128.1:g.9826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.748del MANE Select	ENSP00000325951.4:p.Glu250SerfsTer30
ENST00000324155.8:c.*437del	ENSP00000325831.3:n.*437del
ENST00000333684.9:c.696-431del	ENSP00000328814.6:n.696-431del
ENST00000352909.7:c.748del	ENSP00000325951.3:p.Glu250SerfsTer30
ENST00000381168.7:c.*468del	ENSP00000370560.3:n.*468del
ENST00000381175.5:c.829del	ENSP00000370567.1:p.Glu277SerfsTer30
ENST00000381178.5:c.841del	ENSP00000370571.1:p.Glu281SerfsTer30
ENST00000412076.1:c.136-431del
ENST00000416223.5:c.136-212del
ENST00000469226.1:n.877del
ENST00000479437.5:n.297del
NM_000360.3:c.748del	NP_000351.2:p.Glu250SerfsTer30
NM_199292.2:c.841del	NP_954986.2:p.Glu281SerfsTer30
NM_199293.2:c.829del	NP_954987.2:p.Glu277SerfsTer30
XM_011520335.1:c.760del	XP_011518637.1:p.Glu254SerfsTer30
XM_011520335.2:c.760del	XP_011518637.1:p.Glu254SerfsTer30
NM_000360.4:c.748del MANE Select	NP_000351.2:p.Glu250SerfsTer30
NM_199292.3:c.841del	NP_954986.2:p.Glu281SerfsTer30
NM_199293.3:c.829del	NP_954987.2:p.Glu277SerfsTer30