Canonical Allele Identifier: CA16041805
Gene: ALDH3A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371604
ClinVar RCV Id: RCV000409622
dbSNP Id: rs1057517403

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19649122_19649123del , CM000679.2:g.19649122_19649123del GRCh38
NC_000017.10:g.19552435_19552436del , CM000679.1:g.19552435_19552436del GRCh37
NC_000017.9:g.19493027_19493028del NCBI36
NG_007095.2:g.5372_5373del

Transcript Alleles

HGVS Amino-acid change
NM_000382.2:c.151_152del VV NP_000373.1:p.Lys51GlufsTer2
NM_001031806.1:c.151_152del VV NP_001026976.1:p.Lys51GlufsTer2
XM_011523732.1:c.151_152del XP_011522034.1:p.Lys51GlufsTer2
XM_011523733.1:c.151_152del XP_011522035.1:p.Lys51GlufsTer2
XM_011523733.2:c.151_152del
XM_017024355.1:c.151_152del XP_016879844.1:p.Lys51GlufsTer2
XM_017024356.2:c.151_152del XP_016879845.1:p.Lys51GlufsTer2
XM_017024357.1:c.151_152del XP_016879846.1:p.Lys51GlufsTer2
XM_017024358.2:c.151_152del XP_016879847.1:p.Lys51GlufsTer2
XM_024450652.1:c.-538_-537del XP_024306420.1:p.=
ENST00000176643.10:c.151_152del ENSP00000176643.6:p.Lys51GlufsTer2
ENST00000339618.8:c.151_152del ENSP00000345774.4:p.Lys51GlufsTer2
ENST00000395575.6:c.151_152del ENSP00000378942.2:p.Lys51GlufsTer2
ENST00000446398.6:c.151_152del ENSP00000395845.2:p.Lys51GlufsTer2
ENST00000467473.5:n.308_309del
ENST00000472059.5:c.151_152del ENSP00000458397.1:p.Lys51GlufsTer2
ENST00000578614.1:c.151_152del ENSP00000463128.1:p.Lys51GlyfsTer?
ENST00000579403.1:n.197_198del
ENST00000579855.5:c.151_152del ENSP00000463637.1:p.Lys51GlufsTer2
ENST00000580550.5:c.151_152del ENSP00000462964.1:p.Lys51GlufsTer2
ENST00000581518.5:c.151_152del ENSP00000461916.1:p.Lys51GlufsTer2
ENST00000582991.5:c.151_152del ENSP00000464153.1:p.Lys51GlufsTer2
ENST00000584332.6:c.55_56del ENSP00000466814.1:p.Lys19GlufsTer2
ENST00000626500.2:c.151_152del ENSP00000486283.1:p.Lys51GlufsTer2
ENST00000630662.2:c.-831_-830del ENSP00000487353.1:p.=
ENST00000631291.2:c.151_152del ENSP00000486085.1:p.Lys51GlufsTer2