Canonical Allele Identifier: CA2580082707

Gene: TH

Linked Data

• ClinVar Variation Id: 12332
• ClinVar RCV Id: RCV000013125
• gnomAD v4: 11-2169759-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169764del , CM000673.2:g.2169764del	GRCh38
NC_000011.9:g.2190994del , CM000673.1:g.2190994del	GRCh37
NC_000011.8:g.2147570del	NCBI36
NG_008128.1:g.7046del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.202del MANE Select	ENSP00000325951.4:p.Leu68TrpfsTer15
ENST00000324155.8:c.91-65del	ENSP00000325831.3:n.91-65del
ENST00000333684.9:c.202del	ENSP00000328814.6:p.Leu68TrpfsTer15
ENST00000352909.7:c.202del	ENSP00000325951.3:p.Leu68TrpfsTer15
ENST00000381168.7:c.103-65del	ENSP00000370560.3:n.103-65del
ENST00000381175.5:c.283del	ENSP00000370567.1:p.Leu95TrpfsTer15
ENST00000381178.5:c.295del	ENSP00000370571.1:p.Leu99TrpfsTer15
NM_000360.3:c.202del	NP_000351.2:p.Leu68TrpfsTer15
NM_199292.2:c.295del	NP_954986.2:p.Leu99TrpfsTer15
NM_199293.2:c.283del	NP_954987.2:p.Leu95TrpfsTer15
XM_011520335.1:c.214del	XP_011518637.1:p.Leu72TrpfsTer15
XM_011520335.2:c.214del	XP_011518637.1:p.Leu72TrpfsTer15
NM_000360.4:c.202del MANE Select	NP_000351.2:p.Leu68TrpfsTer15
NM_199292.3:c.295del	NP_954986.2:p.Leu99TrpfsTer15
NM_199293.3:c.283del	NP_954987.2:p.Leu95TrpfsTer15