Canonical Allele Identifier: CA912971960

Gene: TH

Linked Data

• ClinVar Variation Id: 1072805
• ClinVar RCV Id: RCV001385616
• dbSNP Id: rs2133693561
• gnomAD v4: 11-2166939-GC-G
• MyVariant Identifiers: chr11:g.2188170del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166941del , CM000673.2:g.2166941del	GRCh38
NC_000011.9:g.2188171del , CM000673.1:g.2188171del	GRCh37
NC_000011.8:g.2144747del	NCBI36
NG_008128.1:g.9866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.788del MANE Select	ENSP00000325951.4:p.Gly263AlafsTer17
ENST00000324155.8:c.*477del	ENSP00000325831.3:n.*477del
ENST00000333684.9:c.696-391del	ENSP00000328814.6:n.696-391del
ENST00000352909.7:c.788del	ENSP00000325951.3:p.Gly263AlafsTer17
ENST00000381168.7:c.*508del	ENSP00000370560.3:n.*508del
ENST00000381175.5:c.869del	ENSP00000370567.1:p.Gly290AlafsTer17
ENST00000381178.5:c.881del	ENSP00000370571.1:p.Gly294AlafsTer17
ENST00000412076.1:c.136-391del
ENST00000416223.5:c.136-172del
ENST00000469226.1:n.917del
ENST00000479437.5:n.337del
NM_000360.3:c.788del	NP_000351.2:p.Gly263AlafsTer17
NM_199292.2:c.881del	NP_954986.2:p.Gly294AlafsTer17
NM_199293.2:c.869del	NP_954987.2:p.Gly290AlafsTer17
XM_011520335.1:c.800del	XP_011518637.1:p.Gly267AlafsTer17
XM_011520335.2:c.800del	XP_011518637.1:p.Gly267AlafsTer17
NM_000360.4:c.788del MANE Select	NP_000351.2:p.Gly263AlafsTer17
NM_199292.3:c.881del	NP_954986.2:p.Gly294AlafsTer17
NM_199293.3:c.869del	NP_954987.2:p.Gly290AlafsTer17