Canonical Allele Identifier: CA16041814

Gene: ALDH3A2

Linked Data

• ClinVar Variation Id: 370813
• ClinVar RCV Id: RCV000411692
• dbSNP Id: rs1057516788
• gnomAD v4: 17-19661149-AAG-A
• MyVariant Identifiers: chr17:g.19564465_19564466del (hg19) ; chr17:g.19564463_19564464del (hg19) ; chr17:g.19661152_19661153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19661152_19661153del , CM000679.2:g.19661152_19661153del	GRCh38
NC_000017.10:g.19564465_19564466del , CM000679.1:g.19564465_19564466del	GRCh37
NC_000017.9:g.19505057_19505058del	NCBI36
NG_007095.2:g.17402_17403del

Transcript Alleles

HGVS	Amino-acid change
ENST00000176643.11:c.824_825del MANE Select	ENSP00000176643.6:p.Glu275ValfsTer3
ENST00000395575.7:c.497_498del	ENSP00000378942.3:p.Glu166ValfsTer3
ENST00000472059.6:c.*382_*383del	ENSP00000458397.1:n.*382_*383del
ENST00000574078.3:n.153_154del
ENST00000581518.6:c.824_825del	ENSP00000461916.2:p.Glu275ValfsTer3
ENST00000582991.6:c.824_825del	ENSP00000464153.1:p.Glu275ValfsTer3
ENST00000671841.1:n.2503_2504del
ENST00000671878.1:c.824_825del	ENSP00000500516.1:p.Glu275ValfsTer3
ENST00000672059.1:n.1275_1276del
ENST00000672357.1:c.824_825del	ENSP00000500092.1:p.Glu275ValfsTer3
ENST00000672465.1:c.824_825del	ENSP00000500517.1:p.Glu275ValfsTer3
ENST00000672487.1:c.*4_*5del	ENSP00000500740.1:n.*4_*5del
ENST00000672564.1:n.1045_1046del
ENST00000672567.1:c.715_716del
ENST00000672608.1:n.1813_1814del
ENST00000672709.1:c.678_679del
ENST00000673064.1:n.1324_1325del
ENST00000673136.1:c.824_825del	ENSP00000500380.1:p.Glu275ValfsTer3
ENST00000673472.1:n.1160_1161del
ENST00000673516.1:n.1284_1285del
ENST00000176643.10:c.824_825del	ENSP00000176643.6:p.Glu275ValfsTer3
ENST00000339618.8:c.824_825del	ENSP00000345774.4:p.Glu275ValfsTer3
ENST00000395575.6:c.824_825del	ENSP00000378942.2:p.Glu275ValfsTer3
ENST00000472059.5:c.*382_*383del	ENSP00000458397.1:n.*382_*383del
ENST00000476965.5:n.574_575del
ENST00000571537.1:c.317_318del	ENSP00000458942.1:p.Glu106ValfsTer3
ENST00000574078.2:n.153_154del
ENST00000578696.1:c.255_256del
ENST00000579855.5:c.824_825del	ENSP00000463637.1:p.Glu275ValfsTer3
ENST00000581518.5:c.824_825del	ENSP00000461916.1:p.Glu275ValfsTer3
ENST00000582991.5:c.824_825del	ENSP00000464153.1:p.Glu275ValfsTer3
ENST00000630662.2:c.-158_-157del	ENSP00000487353.1:n.-158_-157del
ENST00000631291.2:c.824_825del	ENSP00000486085.1:p.Glu275ValfsTer3
NM_000382.2:c.824_825del	NP_000373.1:p.Glu275ValfsTer3
NM_001031806.1:c.824_825del	NP_001026976.1:p.Glu275ValfsTer3
XM_011523732.1:c.824_825del	XP_011522034.1:p.Glu275ValfsTer3
XM_011523733.1:c.824_825del	XP_011522035.1:p.Glu275ValfsTer3
XM_011523733.2:c.824_825del	XP_011522035.1:p.Glu275ValfsTer3
XM_017024355.1:c.824_825del	XP_016879844.1:p.Glu275ValfsTer3
XM_017024356.2:c.824_825del	XP_016879845.1:p.Glu275ValfsTer3
XM_017024357.1:c.824_825del	XP_016879846.1:p.Glu275ValfsTer3
XM_017024358.2:c.824_825del	XP_016879847.1:p.Glu275ValfsTer3
XM_024450651.1:c.245_246del	XP_024306419.1:p.Glu82ValfsTer3
XM_024450652.1:c.245_246del	XP_024306420.1:p.Glu82ValfsTer3
NM_000382.3:c.824_825del MANE Select	NP_000373.1:p.Glu275ValfsTer3
NM_001031806.2:c.824_825del	NP_001026976.1:p.Glu275ValfsTer3
NM_001369136.1:c.824_825del	NP_001356065.1:p.Glu275ValfsTer3
NM_001369137.1:c.824_825del	NP_001356066.1:p.Glu275ValfsTer3
NM_001369138.1:c.824_825del	NP_001356067.1:p.Glu275ValfsTer3
NM_001369139.1:c.824_825del	NP_001356068.1:p.Glu275ValfsTer3
NM_001369146.1:c.824_825del	NP_001356075.1:p.Glu275ValfsTer3
NM_001369148.1:c.245_246del	NP_001356077.1:p.Glu82ValfsTer3
NM_001369137.2:c.824_825del	NP_001356066.1:p.Glu275ValfsTer3
NM_001369138.2:c.824_825del	NP_001356067.1:p.Glu275ValfsTer3
NM_001369146.2:c.824_825del	NP_001356075.1:p.Glu275ValfsTer3
NM_001369148.2:c.245_246del	NP_001356077.1:p.Glu82ValfsTer3