Canonical Allele Identifier: CA1139661749

Gene: TH

Linked Data

• ClinVar Variation Id: 946763
• ClinVar RCV Id: RCV001217693
• dbSNP Id: rs1846263622

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171709del , CM000673.2:g.2171709del	GRCh38
NC_000011.9:g.2192939del , CM000673.1:g.2192939del	GRCh37
NC_000011.8:g.2149515del	NCBI36
NG_008128.1:g.5097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.78del MANE Select	ENSP00000325951.4:p.Glu27ArgfsTer?
ENST00000324155.8:c.78del	ENSP00000325831.3:p.Glu27ArgfsTer?
ENST00000333684.9:c.78del	ENSP00000328814.6:p.Glu27ArgfsTer?
ENST00000352909.7:c.78del	ENSP00000325951.3:p.Glu27ArgfsTer?
ENST00000381168.7:c.78del	ENSP00000370560.3:p.Glu27ArgfsTer5
ENST00000381175.5:c.78del	ENSP00000370567.1:p.Glu27ArgfsTer?
ENST00000381178.5:c.78del	ENSP00000370571.1:p.Glu27ArgfsTer5
NM_000360.3:c.78del	NP_000351.2:p.Glu27ArgfsTer?
NM_199292.2:c.78del	NP_954986.2:p.Glu27ArgfsTer5
NM_199293.2:c.78del	NP_954987.2:p.Glu27ArgfsTer?
XM_011520335.1:c.78del	XP_011518637.1:p.Glu27ArgfsTer5
XM_011520335.2:c.78del	XP_011518637.1:p.Glu27ArgfsTer5
NM_000360.4:c.78del MANE Select	NP_000351.2:p.Glu27ArgfsTer?
NM_199292.3:c.78del	NP_954986.2:p.Glu27ArgfsTer5
NM_199293.3:c.78del	NP_954987.2:p.Glu27ArgfsTer?