Canonical Allele Identifier: CA912999785
Gene: ALDH3A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19671723_19671724del , CM000679.2:g.19671723_19671724del GRCh38
NC_000017.10:g.19575036_19575037del , CM000679.1:g.19575036_19575037del GRCh37
NC_000017.9:g.19515628_19515629del NCBI36
NG_007095.2:g.27973_27974del

Transcript Alleles

HGVS Amino-acid Change
ENST00000176643.11:c.1210_1211del MANE Select ENSP00000176643.6:p.Ser404GlnfsTer11
ENST00000395575.7:c.883_884del ENSP00000378942.3:p.Ser295GlnfsTer11
ENST00000472059.6:c.*768_*769del ENSP00000458397.1:n.*768_*769del
ENST00000571163.2:c.227-3773_227-3772del ENSP00000459977.2:n.227-3773_227-3772del
ENST00000573947.2:c.10_11del ENSP00000462933.2:p.Ser4GlnfsTer11
ENST00000574078.3:n.539_540del
ENST00000581518.6:c.1210_1211del ENSP00000461916.2:p.Ser404GlnfsTer11
ENST00000582991.6:c.1110_1111del ENSP00000464153.1:p.Pro371SerfsTer?
ENST00000671878.1:c.1210_1211del ENSP00000500516.1:p.Ser404GlnfsTer11
ENST00000672059.1:n.1561_1562del
ENST00000672357.1:c.1210_1211del ENSP00000500092.1:p.Ser404GlnfsTer11
ENST00000672465.1:c.1210_1211del ENSP00000500517.1:p.Ser404GlnfsTer11
ENST00000672487.1:c.*390_*391del ENSP00000500740.1:n.*390_*391del
ENST00000672564.1:n.2879_2880del
ENST00000672567.1:c.1098+6676_1098+6677del
ENST00000672591.1:c.270_271del
ENST00000672608.1:n.2199_2200del
ENST00000672709.1:c.1064_1065del
ENST00000673064.1:n.1710_1711del
ENST00000673136.1:c.1208-3773_1208-3772del ENSP00000500380.1:n.1208-3773_1208-3772del
ENST00000673472.1:n.1546_1547del
ENST00000673516.1:n.1670_1671del
ENST00000176643.10:c.1210_1211del ENSP00000176643.6:p.Ser404GlnfsTer11
ENST00000339618.8:c.1210_1211del ENSP00000345774.4:p.Ser404GlnfsTer11
ENST00000395575.6:c.1210_1211del ENSP00000378942.2:p.Ser404GlnfsTer11
ENST00000472059.5:c.*768_*769del ENSP00000458397.1:n.*768_*769del
ENST00000476965.5:n.960_961del
ENST00000571163.1:c.227-3835_227-3834del ENSP00000459977.1:n.227-3835_227-3834del
ENST00000573947.1:c.117_118del ENSP00000462933.1:p.Pro40SerfsTer?
ENST00000579855.5:c.1210_1211del ENSP00000463637.1:p.Ser404GlnfsTer11
ENST00000581518.5:c.1210_1211del ENSP00000461916.1:p.Ser404GlnfsTer11
ENST00000582991.5:c.1110_1111del ENSP00000464153.1:p.Pro371SerfsTer?
ENST00000630662.2:c.227-3835_227-3834del ENSP00000487353.1:n.227-3835_227-3834del
ENST00000631291.2:c.1110_1111del ENSP00000486085.1:p.Pro371SerfsTer?
NM_000382.2:c.1210_1211del NP_000373.1:p.Ser404GlnfsTer11
NM_001031806.1:c.1210_1211del NP_001026976.1:p.Ser404GlnfsTer11
XM_011523732.1:c.1210_1211del XP_011522034.1:p.Ser404GlnfsTer11
XM_011523733.1:c.1210_1211del XP_011522035.1:p.Ser404GlnfsTer11
XM_011523733.2:c.1210_1211del XP_011522035.1:p.Ser404GlnfsTer11
XM_017024355.1:c.1208-3835_1208-3834del XP_016879844.1:n.1208-3835_1208-3834del
XM_017024356.2:c.1210_1211del XP_016879845.1:p.Ser404GlnfsTer11
XM_017024357.1:c.1210_1211del XP_016879846.1:p.Ser404GlnfsTer11
XM_017024358.2:c.1208-3835_1208-3834del XP_016879847.1:n.1208-3835_1208-3834del
XM_024450651.1:c.631_632del XP_024306419.1:p.Ser211GlnfsTer11
XM_024450652.1:c.631_632del XP_024306420.1:p.Ser211GlnfsTer11
NM_000382.3:c.1210_1211del MANE Select NP_000373.1:p.Ser404GlnfsTer11
NM_001031806.2:c.1210_1211del NP_001026976.1:p.Ser404GlnfsTer11
NM_001369136.1:c.1210_1211del NP_001356065.1:p.Ser404GlnfsTer11
NM_001369137.1:c.1210_1211del NP_001356066.1:p.Ser404GlnfsTer11
NM_001369138.1:c.1210_1211del NP_001356067.1:p.Ser404GlnfsTer11
NM_001369139.1:c.1210_1211del NP_001356068.1:p.Ser404GlnfsTer11
NM_001369146.1:c.1208-3835_1208-3834del NP_001356075.1:n.1208-3835_1208-3834del
NM_001369148.1:c.631_632del NP_001356077.1:p.Ser211GlnfsTer11
NM_001369137.2:c.1210_1211del NP_001356066.1:p.Ser404GlnfsTer11
NM_001369138.2:c.1210_1211del NP_001356067.1:p.Ser404GlnfsTer11
NM_001369146.2:c.1208-3835_1208-3834del NP_001356075.1:n.1208-3835_1208-3834del
NM_001369148.2:c.631_632del NP_001356077.1:p.Ser211GlnfsTer11