Canonical Allele Identifier: CA982110652

Gene: ALDH3A2

Linked Data

• dbSNP Id: rs2085116401
• gnomAD v3: 17-19671757-GT-G
• gnomAD v4: 17-19671757-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19671761del , CM000679.2:g.19671761del	GRCh38
NC_000017.10:g.19575074del , CM000679.1:g.19575074del	GRCh37
NC_000017.9:g.19515666del	NCBI36
NG_007095.2:g.28011del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.1248del MANE Select	ENSP00000176643.6:p.Phe416LeufsTer12
ENST00000395575.7:c.921del	ENSP00000378942.3:p.Phe307LeufsTer12
ENST00000472059.6:c.*806del	ENSP00000458397.1:n.*806del
ENST00000571163.2:c.227-3735del	ENSP00000459977.2:n.227-3735del
ENST00000573947.2:c.48del	ENSP00000462933.2:p.Phe16LeufsTer12
ENST00000574078.3:n.577del
ENST00000581518.6:c.1248del	ENSP00000461916.2:p.Phe416LeufsTer12
ENST00000582991.6:c.1148del	ENSP00000464153.1:p.Leu383Ter
ENST00000671878.1:c.1248del	ENSP00000500516.1:p.Phe416LeufsTer12
ENST00000672059.1:n.1599del
ENST00000672357.1:c.1248del	ENSP00000500092.1:p.Phe416LeufsTer12
ENST00000672465.1:c.1248del	ENSP00000500517.1:p.Phe416LeufsTer12
ENST00000672487.1:c.*428del	ENSP00000500740.1:n.*428del
ENST00000672564.1:n.2917del
ENST00000672567.1:c.1098+6714del
ENST00000672591.1:c.308del
ENST00000672608.1:n.2237del
ENST00000672709.1:c.1102del
ENST00000673064.1:n.1748del
ENST00000673136.1:c.1208-3735del	ENSP00000500380.1:n.1208-3735del
ENST00000673472.1:n.1584del
ENST00000673516.1:n.1708del
ENST00000176643.10:c.1248del	ENSP00000176643.6:p.Phe416LeufsTer12
ENST00000339618.8:c.1248del	ENSP00000345774.4:p.Phe416LeufsTer12
ENST00000395575.6:c.1248del	ENSP00000378942.2:p.Phe416LeufsTer12
ENST00000472059.5:c.*806del	ENSP00000458397.1:n.*806del
ENST00000476965.5:n.998del
ENST00000571163.1:c.227-3797del	ENSP00000459977.1:n.227-3797del
ENST00000573947.1:c.155del	ENSP00000462933.1:p.Leu52Ter
ENST00000579855.5:c.1248del	ENSP00000463637.1:p.Phe416LeufsTer12
ENST00000581518.5:c.1248del	ENSP00000461916.1:p.Phe416LeufsTer12
ENST00000582991.5:c.1148del	ENSP00000464153.1:p.Leu383Ter
ENST00000630662.2:c.227-3797del	ENSP00000487353.1:n.227-3797del
ENST00000631291.2:c.1148del	ENSP00000486085.1:p.Leu383Ter
NM_000382.2:c.1248del	NP_000373.1:p.Phe416LeufsTer12
NM_001031806.1:c.1248del	NP_001026976.1:p.Phe416LeufsTer12
XM_011523732.1:c.1248del	XP_011522034.1:p.Phe416LeufsTer12
XM_011523733.1:c.1248del	XP_011522035.1:p.Phe416LeufsTer12
XM_011523733.2:c.1248del	XP_011522035.1:p.Phe416LeufsTer12
XM_017024355.1:c.1208-3797del	XP_016879844.1:n.1208-3797del
XM_017024356.2:c.1248del	XP_016879845.1:p.Phe416LeufsTer12
XM_017024357.1:c.1248del	XP_016879846.1:p.Phe416LeufsTer12
XM_017024358.2:c.1208-3797del	XP_016879847.1:n.1208-3797del
XM_024450651.1:c.669del	XP_024306419.1:p.Phe223LeufsTer12
XM_024450652.1:c.669del	XP_024306420.1:p.Phe223LeufsTer12
NM_000382.3:c.1248del MANE Select	NP_000373.1:p.Phe416LeufsTer12
NM_001031806.2:c.1248del	NP_001026976.1:p.Phe416LeufsTer12
NM_001369136.1:c.1248del	NP_001356065.1:p.Phe416LeufsTer12
NM_001369137.1:c.1248del	NP_001356066.1:p.Phe416LeufsTer12
NM_001369138.1:c.1248del	NP_001356067.1:p.Phe416LeufsTer12
NM_001369139.1:c.1248del	NP_001356068.1:p.Phe416LeufsTer12
NM_001369146.1:c.1208-3797del	NP_001356075.1:n.1208-3797del
NM_001369148.1:c.669del	NP_001356077.1:p.Phe223LeufsTer12
NM_001369137.2:c.1248del	NP_001356066.1:p.Phe416LeufsTer12
NM_001369138.2:c.1248del	NP_001356067.1:p.Phe416LeufsTer12
NM_001369146.2:c.1208-3797del	NP_001356075.1:n.1208-3797del
NM_001369148.2:c.669del	NP_001356077.1:p.Phe223LeufsTer12