Canonical Allele Identifier: CA912999788
Gene: ALDH3A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19671878_19671879del , CM000679.2:g.19671878_19671879del GRCh38
NC_000017.10:g.19575191_19575192del , CM000679.1:g.19575191_19575192del GRCh37
NC_000017.9:g.19515783_19515784del NCBI36
NG_007095.2:g.28128_28129del

Transcript Alleles

HGVS Amino-acid Change
ENST00000176643.11:c.1365_1366del MANE Select ENSP00000176643.6:p.Leu456GlufsTer?
ENST00000395575.7:c.1038_1039del ENSP00000378942.3:p.Leu347GlufsTer?
ENST00000472059.6:c.*923_*924del ENSP00000458397.1:n.*923_*924del
ENST00000571163.2:c.227-3618_227-3617del ENSP00000459977.2:n.227-3618_227-3617del
ENST00000573947.2:c.165_166del ENSP00000462933.2:p.Leu56GlufsTer27
ENST00000574078.3:n.694_695del
ENST00000581518.6:c.1365_1366del ENSP00000461916.2:p.Leu456GlufsTer?
ENST00000582991.6:c.*83_*84del ENSP00000464153.1:n.*83_*84del
ENST00000671878.1:c.1365_1366del ENSP00000500516.1:p.Leu456GlufsTer?
ENST00000672059.1:n.1716_1717del
ENST00000672357.1:c.1365_1366del ENSP00000500092.1:p.Leu456GlufsTer?
ENST00000672465.1:c.1365_1366del ENSP00000500517.1:p.Leu456GlufsTer?
ENST00000672487.1:c.*545_*546del ENSP00000500740.1:n.*545_*546del
ENST00000672564.1:n.3034_3035del
ENST00000672567.1:c.1098+6831_1098+6832del
ENST00000672591.1:c.425_426del
ENST00000672608.1:n.2354_2355del
ENST00000672709.1:c.1219_1220del
ENST00000673064.1:n.1865_1866del
ENST00000673136.1:c.1208-3618_1208-3617del ENSP00000500380.1:n.1208-3618_1208-3617del
ENST00000673472.1:n.1701_1702del
ENST00000673516.1:n.1825_1826del
ENST00000176643.10:c.1365_1366del ENSP00000176643.6:p.Leu456GlufsTer?
ENST00000339618.8:c.1365_1366del ENSP00000345774.4:p.Leu456GlufsTer?
ENST00000395575.6:c.1365_1366del ENSP00000378942.2:p.Leu456GlufsTer?
ENST00000472059.5:c.*923_*924del ENSP00000458397.1:n.*923_*924del
ENST00000476965.5:n.1115_1116del
ENST00000571163.1:c.227-3680_227-3679del ENSP00000459977.1:n.227-3680_227-3679del
ENST00000573565.1:c.80_81del
ENST00000573947.1:c.272_273del ENSP00000462933.1:n.272_273del
ENST00000575384.2:c.111_112del ENSP00000461235.2:p.Leu38GlufsTer?
ENST00000579855.5:c.1365_1366del ENSP00000463637.1:p.Leu456GlufsTer?
ENST00000581518.5:c.1365_1366del ENSP00000461916.1:p.Leu456GlufsTer?
ENST00000582991.5:c.*83_*84del ENSP00000464153.1:n.*83_*84del
ENST00000630662.2:c.227-3680_227-3679del ENSP00000487353.1:n.227-3680_227-3679del
ENST00000631291.2:c.*83_*84del ENSP00000486085.1:n.*83_*84del
NM_000382.2:c.1365_1366del NP_000373.1:p.Leu456GlufsTer?
NM_001031806.1:c.1365_1366del NP_001026976.1:p.Leu456GlufsTer?
XM_011523732.1:c.1365_1366del XP_011522034.1:p.Leu456GlufsTer?
XM_011523733.1:c.1365_1366del XP_011522035.1:p.Leu456GlufsTer?
XM_011523733.2:c.1365_1366del XP_011522035.1:p.Leu456GlufsTer?
XM_017024355.1:c.1208-3680_1208-3679del XP_016879844.1:n.1208-3680_1208-3679del
XM_017024356.2:c.1365_1366del XP_016879845.1:p.Leu456GlufsTer?
XM_017024357.1:c.1365_1366del XP_016879846.1:p.Leu456GlufsTer?
XM_017024358.2:c.1208-3680_1208-3679del XP_016879847.1:n.1208-3680_1208-3679del
XM_024450651.1:c.786_787del XP_024306419.1:p.Leu263GlufsTer?
XM_024450652.1:c.786_787del XP_024306420.1:p.Leu263GlufsTer?
NM_000382.3:c.1365_1366del MANE Select NP_000373.1:p.Leu456GlufsTer?
NM_001031806.2:c.1365_1366del NP_001026976.1:p.Leu456GlufsTer?
NM_001369136.1:c.1365_1366del NP_001356065.1:p.Leu456GlufsTer?
NM_001369137.1:c.1365_1366del NP_001356066.1:p.Leu456GlufsTer?
NM_001369138.1:c.1365_1366del NP_001356067.1:p.Leu456GlufsTer?
NM_001369139.1:c.1365_1366del NP_001356068.1:p.Leu456GlufsTer?
NM_001369146.1:c.1208-3680_1208-3679del NP_001356075.1:n.1208-3680_1208-3679del
NM_001369148.1:c.786_787del NP_001356077.1:p.Leu263GlufsTer?
NM_001369137.2:c.1365_1366del NP_001356066.1:p.Leu456GlufsTer?
NM_001369138.2:c.1365_1366del NP_001356067.1:p.Leu456GlufsTer?
NM_001369146.2:c.1208-3680_1208-3679del NP_001356075.1:n.1208-3680_1208-3679del
NM_001369148.2:c.786_787del NP_001356077.1:p.Leu263GlufsTer?