Canonical Allele Identifier: CA199111
Gene: ALDH3A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 189010
ClinVar RCV Id: RCV000169395
dbSNP Id: rs786204625

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19663492del , CM000679.2:g.19663492del GRCh38
NC_000017.10:g.19566805del , CM000679.1:g.19566805del GRCh37
NC_000017.9:g.19507397del NCBI36
NG_007095.2:g.19742del

Transcript Alleles

HGVS Amino-acid change
ENST00000176643.11:c.1100del MANE Select ENSP00000176643.6:p.Asn367ThrfsTer8
ENST00000395575.7:c.773del ENSP00000378942.3:p.Asn258ThrfsTer8
ENST00000472059.6:c.*658del ENSP00000458397.1:n.*658del
ENST00000571163.2:c.119del ENSP00000459977.2:p.Asn40ThrfsTer8
ENST00000574078.3:n.429del
ENST00000581518.6:c.1100del ENSP00000461916.2:p.Asn367ThrfsTer8
ENST00000582991.6:c.1100del ENSP00000464153.1:p.Asn367ThrfsTer15
ENST00000671878.1:c.1100del ENSP00000500516.1:p.Asn367ThrfsTer8
ENST00000672059.1:n.1551del
ENST00000672357.1:c.1100del ENSP00000500092.1:p.Asn367ThrfsTer8
ENST00000672465.1:c.1100del ENSP00000500517.1:p.Asn367ThrfsTer8
ENST00000672487.1:c.*280del ENSP00000500740.1:n.*280del
ENST00000672564.1:n.1321del
ENST00000672567.1:c.991del
ENST00000672591.1:c.160del
ENST00000672608.1:n.2089del
ENST00000672709.1:c.954del
ENST00000673064.1:n.1600del
ENST00000673136.1:c.1100del ENSP00000500380.1:p.Asn367ThrfsTer8
ENST00000673472.1:n.1436del
ENST00000673516.1:n.1560del
ENST00000176643.10:c.1100del ENSP00000176643.6:p.Asn367ThrfsTer8
ENST00000339618.8:c.1100del ENSP00000345774.4:p.Asn367ThrfsTer8
ENST00000395575.6:c.1100del ENSP00000378942.2:p.Asn367ThrfsTer8
ENST00000472059.5:c.*658del ENSP00000458397.1:n.*658del
ENST00000476965.5:n.850del
ENST00000571163.1:c.119del ENSP00000459977.1:p.Asn40ThrfsTer8
ENST00000573947.1:c.107del ENSP00000462933.1:p.Asn36ThrfsTer15
ENST00000574078.2:n.429del
ENST00000579855.5:c.1100del ENSP00000463637.1:p.Asn367ThrfsTer8
ENST00000581518.5:c.1100del ENSP00000461916.1:p.Asn367ThrfsTer8
ENST00000582991.5:c.1100del ENSP00000464153.1:p.Asn367ThrfsTer15
ENST00000630662.2:c.119del ENSP00000487353.1:p.Asn40ThrfsTer8
ENST00000631291.2:c.1100del ENSP00000486085.1:p.Asn367ThrfsTer15
NM_000382.2:c.1100del NP_000373.1:p.Asn367ThrfsTer8
NM_001031806.1:c.1100del NP_001026976.1:p.Asn367ThrfsTer8
XM_011523732.1:c.1100del XP_011522034.1:p.Asn367ThrfsTer8
XM_011523733.1:c.1100del XP_011522035.1:p.Asn367ThrfsTer8
XM_011523733.2:c.1100del XP_011522035.1:p.Asn367ThrfsTer8
XM_017024355.1:c.1100del XP_016879844.1:p.Asn367ThrfsTer8
XM_017024356.2:c.1100del XP_016879845.1:p.Asn367ThrfsTer8
XM_017024357.1:c.1100del XP_016879846.1:p.Asn367ThrfsTer8
XM_017024358.2:c.1100del XP_016879847.1:p.Asn367ThrfsTer8
XM_024450651.1:c.521del XP_024306419.1:p.Asn174ThrfsTer8
XM_024450652.1:c.521del XP_024306420.1:p.Asn174ThrfsTer8
NM_000382.3:c.1100del MANE Select NP_000373.1:p.Asn367ThrfsTer8
NM_001031806.2:c.1100del NP_001026976.1:p.Asn367ThrfsTer8
NM_001369136.1:c.1100del NP_001356065.1:p.Asn367ThrfsTer8
NM_001369137.1:c.1100del NP_001356066.1:p.Asn367ThrfsTer8
NM_001369138.1:c.1100del NP_001356067.1:p.Asn367ThrfsTer8
NM_001369139.1:c.1100del NP_001356068.1:p.Asn367ThrfsTer8
NM_001369146.1:c.1100del NP_001356075.1:p.Asn367ThrfsTer8
NM_001369148.1:c.521del NP_001356077.1:p.Asn174ThrfsTer8
NM_001369137.2:c.1100del NP_001356066.1:p.Asn367ThrfsTer8
NM_001369138.2:c.1100del NP_001356067.1:p.Asn367ThrfsTer8
NM_001369146.2:c.1100del NP_001356075.1:p.Asn367ThrfsTer8
NM_001369148.2:c.521del NP_001356077.1:p.Asn174ThrfsTer8