Canonical Allele Identifier: CA658821343

Gene: TH

Linked Data

• ClinVar Variation Id: 554338
• ClinVar RCV Id: RCV000669954
• dbSNP Id: rs1554924357
• MyVariant Identifiers: chr11:g.2171744_2171775del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171746_2171777del , CM000673.2:g.2171746_2171777del	GRCh38
NC_000011.9:g.2192976_2193007del , CM000673.1:g.2192976_2193007del	GRCh37
NC_000011.8:g.2149552_2149583del	NCBI36
NG_008128.1:g.5031_5062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.12_43del MANE Select	ENSP00000325951.4:p.Asp5GlnfsTer5
ENST00000324155.8:c.12_43del	ENSP00000325831.3:p.Asp5GlnfsTer5
ENST00000333684.9:c.12_43del	ENSP00000328814.6:p.Asp5GlnfsTer5
ENST00000352909.7:c.12_43del	ENSP00000325951.3:p.Asp5GlnfsTer5
ENST00000381168.7:c.12_43del	ENSP00000370560.3:p.Asp5GlnfsTer5
ENST00000381175.5:c.12_43del	ENSP00000370567.1:p.Asp5GlnfsTer5
ENST00000381178.5:c.12_43del	ENSP00000370571.1:p.Asp5GlnfsTer5
NM_000360.3:c.12_43del	NP_000351.2:p.Asp5GlnfsTer5
NM_199292.2:c.12_43del	NP_954986.2:p.Asp5GlnfsTer5
NM_199293.2:c.12_43del	NP_954987.2:p.Asp5GlnfsTer5
XM_011520335.1:c.12_43del	XP_011518637.1:p.Asp5GlnfsTer5
XM_011520335.2:c.12_43del	XP_011518637.1:p.Asp5GlnfsTer5
NM_000360.4:c.12_43del MANE Select	NP_000351.2:p.Asp5GlnfsTer5
NM_199292.3:c.12_43del	NP_954986.2:p.Asp5GlnfsTer5
NM_199293.3:c.12_43del	NP_954987.2:p.Asp5GlnfsTer5