Canonical Allele Identifier: CA2695224538
Gene: ALDH3A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19671897_19671900del , CM000679.2:g.19671897_19671900del GRCh38
NC_000017.10:g.19575210_19575213del , CM000679.1:g.19575210_19575213del GRCh37
NC_000017.9:g.19515802_19515805del NCBI36
NG_007095.2:g.28147_28150del

Transcript Alleles

HGVS Amino-acid Change
ENST00000176643.11:c.1384_1387del MANE Select ENSP00000176643.6:p.Glu462AsnfsTer13
ENST00000395575.7:c.1057_1060del ENSP00000378942.3:p.Glu353AsnfsTer13
ENST00000472059.6:c.*942_*945del ENSP00000458397.1:n.*942_*945del
ENST00000571163.2:c.227-3599_227-3596del ENSP00000459977.2:n.227-3599_227-3596del
ENST00000573947.2:c.184_187del ENSP00000462933.2:p.Glu62AsnfsTer13
ENST00000574078.3:n.713_716del
ENST00000581518.6:c.1384_1387del ENSP00000461916.2:p.Glu462AsnfsTer13
ENST00000582991.6:c.*102_*105del ENSP00000464153.1:n.*102_*105del
ENST00000671878.1:c.1384_1387del ENSP00000500516.1:p.Glu462AsnfsTer13
ENST00000672059.1:n.1735_1738del
ENST00000672357.1:c.1384_1387del ENSP00000500092.1:p.Glu462AsnfsTer13
ENST00000672465.1:c.1384_1387del ENSP00000500517.1:p.Glu462AsnfsTer13
ENST00000672487.1:c.*564_*567del ENSP00000500740.1:n.*564_*567del
ENST00000672564.1:n.3053_3056del
ENST00000672567.1:c.1098+6850_1098+6853del
ENST00000672591.1:c.444_447del
ENST00000672608.1:n.2373_2376del
ENST00000672709.1:c.1238_1241del
ENST00000673064.1:n.1884_1887del
ENST00000673136.1:c.1208-3599_1208-3596del ENSP00000500380.1:n.1208-3599_1208-3596del
ENST00000673472.1:n.1720_1723del
ENST00000673516.1:n.1844_1847del
ENST00000176643.10:c.1384_1387del ENSP00000176643.6:p.Glu462AsnfsTer13
ENST00000339618.8:c.1384_1387del ENSP00000345774.4:p.Glu462AsnfsTer13
ENST00000395575.6:c.1384_1387del ENSP00000378942.2:p.Glu462AsnfsTer13
ENST00000472059.5:c.*942_*945del ENSP00000458397.1:n.*942_*945del
ENST00000476965.5:n.1134_1137del
ENST00000571163.1:c.227-3661_227-3658del ENSP00000459977.1:n.227-3661_227-3658del
ENST00000573565.1:c.99_102del
ENST00000573947.1:c.291_294del ENSP00000462933.1:n.291_294del
ENST00000575384.2:c.130_133del ENSP00000461235.2:p.Glu44AsnfsTer13
ENST00000579855.5:c.1384_1387del ENSP00000463637.1:p.Glu462AsnfsTer13
ENST00000581518.5:c.1384_1387del ENSP00000461916.1:p.Glu462AsnfsTer13
ENST00000582991.5:c.*102_*105del ENSP00000464153.1:n.*102_*105del
ENST00000630662.2:c.227-3661_227-3658del ENSP00000487353.1:n.227-3661_227-3658del
ENST00000631291.2:c.*102_*105del ENSP00000486085.1:n.*102_*105del
NM_000382.2:c.1384_1387del NP_000373.1:p.Glu462AsnfsTer13
NM_001031806.1:c.1384_1387del NP_001026976.1:p.Glu462AsnfsTer13
XM_011523732.1:c.1384_1387del XP_011522034.1:p.Glu462AsnfsTer13
XM_011523733.1:c.1384_1387del XP_011522035.1:p.Glu462AsnfsTer13
XM_011523733.2:c.1384_1387del XP_011522035.1:p.Glu462AsnfsTer13
XM_017024355.1:c.1208-3661_1208-3658del XP_016879844.1:n.1208-3661_1208-3658del
XM_017024356.2:c.1384_1387del XP_016879845.1:p.Glu462AsnfsTer13
XM_017024357.1:c.1384_1387del XP_016879846.1:p.Glu462AsnfsTer13
XM_017024358.2:c.1208-3661_1208-3658del XP_016879847.1:n.1208-3661_1208-3658del
XM_024450651.1:c.805_808del XP_024306419.1:p.Glu269AsnfsTer13
XM_024450652.1:c.805_808del XP_024306420.1:p.Glu269AsnfsTer13
NM_000382.3:c.1384_1387del MANE Select NP_000373.1:p.Glu462AsnfsTer13
NM_001031806.2:c.1384_1387del NP_001026976.1:p.Glu462AsnfsTer13
NM_001369136.1:c.1384_1387del NP_001356065.1:p.Glu462AsnfsTer13
NM_001369137.1:c.1384_1387del NP_001356066.1:p.Glu462AsnfsTer13
NM_001369138.1:c.1384_1387del NP_001356067.1:p.Glu462AsnfsTer13
NM_001369139.1:c.1384_1387del NP_001356068.1:p.Glu462AsnfsTer13
NM_001369146.1:c.1208-3661_1208-3658del NP_001356075.1:n.1208-3661_1208-3658del
NM_001369148.1:c.805_808del NP_001356077.1:p.Glu269AsnfsTer13
NM_001369137.2:c.1384_1387del NP_001356066.1:p.Glu462AsnfsTer13
NM_001369138.2:c.1384_1387del NP_001356067.1:p.Glu462AsnfsTer13
NM_001369146.2:c.1208-3661_1208-3658del NP_001356075.1:n.1208-3661_1208-3658del
NM_001369148.2:c.805_808del NP_001356077.1:p.Glu269AsnfsTer13