Canonical Allele Identifier: CA2573153154

Gene: ALDH3A2

Linked Data

• ClinVar Variation Id: 1403786
• ClinVar RCV Id: RCV001898868
• dbSNP Id: rs2152331147
• gnomAD v4: 17-19664975-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19664977del , CM000679.2:g.19664977del	GRCh38
NC_000017.10:g.19568290del , CM000679.1:g.19568290del	GRCh37
NC_000017.9:g.19508882del	NCBI36
NG_007095.2:g.21227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.1137del MANE Select	ENSP00000176643.6:p.Ser380ValfsTer?
ENST00000395575.7:c.810del	ENSP00000378942.3:p.Ser271ValfsTer?
ENST00000472059.6:c.*695del	ENSP00000458397.1:n.*695del
ENST00000571163.2:c.156del	ENSP00000459977.2:p.Ser53ValfsTer28
ENST00000574078.3:n.466del
ENST00000581518.6:c.1137del	ENSP00000461916.2:p.Ser380ValfsTer?
ENST00000582991.6:c.1107+1478del	ENSP00000464153.1:n.1107+1478del
ENST00000671878.1:c.1137del	ENSP00000500516.1:p.Ser380ValfsTer?
ENST00000672059.1:n.1558+1478del
ENST00000672357.1:c.1137del	ENSP00000500092.1:p.Ser380ValfsTer?
ENST00000672465.1:c.1137del	ENSP00000500517.1:p.Ser380ValfsTer?
ENST00000672487.1:c.*317del	ENSP00000500740.1:n.*317del
ENST00000672564.1:n.2806del
ENST00000672567.1:c.1028del
ENST00000672591.1:c.197del
ENST00000672608.1:n.2126del
ENST00000672709.1:c.991del
ENST00000673064.1:n.1637del
ENST00000673136.1:c.1137del	ENSP00000500380.1:p.Ser380ValfsTer28
ENST00000673472.1:n.1473del
ENST00000673516.1:n.1597del
ENST00000176643.10:c.1137del	ENSP00000176643.6:p.Ser380ValfsTer?
ENST00000339618.8:c.1137del	ENSP00000345774.4:p.Ser380ValfsTer?
ENST00000395575.6:c.1137del	ENSP00000378942.2:p.Ser380ValfsTer?
ENST00000472059.5:c.*695del	ENSP00000458397.1:n.*695del
ENST00000476965.5:n.887del
ENST00000571163.1:c.156del	ENSP00000459977.1:p.Ser53ValfsTer28
ENST00000573947.1:c.114+1478del	ENSP00000462933.1:n.114+1478del
ENST00000579855.5:c.1137del	ENSP00000463637.1:p.Ser380ValfsTer?
ENST00000581518.5:c.1137del	ENSP00000461916.1:p.Ser380ValfsTer?
ENST00000582991.5:c.1107+1478del	ENSP00000464153.1:n.1107+1478del
ENST00000630662.2:c.156del	ENSP00000487353.1:p.Ser53ValfsTer28
ENST00000631291.2:c.1107+1478del	ENSP00000486085.1:n.1107+1478del
NM_000382.2:c.1137del	NP_000373.1:p.Ser380ValfsTer?
NM_001031806.1:c.1137del	NP_001026976.1:p.Ser380ValfsTer?
XM_011523732.1:c.1137del	XP_011522034.1:p.Ser380ValfsTer?
XM_011523733.1:c.1137del	XP_011522035.1:p.Ser380ValfsTer?
XM_011523733.2:c.1137del	XP_011522035.1:p.Ser380ValfsTer?
XM_017024355.1:c.1137del	XP_016879844.1:p.Ser380ValfsTer28
XM_017024356.2:c.1137del	XP_016879845.1:p.Ser380ValfsTer?
XM_017024357.1:c.1137del	XP_016879846.1:p.Ser380ValfsTer?
XM_017024358.2:c.1137del	XP_016879847.1:p.Ser380ValfsTer28
XM_024450651.1:c.558del	XP_024306419.1:p.Ser187ValfsTer?
XM_024450652.1:c.558del	XP_024306420.1:p.Ser187ValfsTer?
NM_000382.3:c.1137del MANE Select	NP_000373.1:p.Ser380ValfsTer?
NM_001031806.2:c.1137del	NP_001026976.1:p.Ser380ValfsTer?
NM_001369136.1:c.1137del	NP_001356065.1:p.Ser380ValfsTer?
NM_001369137.1:c.1137del	NP_001356066.1:p.Ser380ValfsTer?
NM_001369138.1:c.1137del	NP_001356067.1:p.Ser380ValfsTer?
NM_001369139.1:c.1137del	NP_001356068.1:p.Ser380ValfsTer?
NM_001369146.1:c.1137del	NP_001356075.1:p.Ser380ValfsTer28
NM_001369148.1:c.558del	NP_001356077.1:p.Ser187ValfsTer?
NM_001369137.2:c.1137del	NP_001356066.1:p.Ser380ValfsTer?
NM_001369138.2:c.1137del	NP_001356067.1:p.Ser380ValfsTer?
NM_001369146.2:c.1137del	NP_001356075.1:p.Ser380ValfsTer28
NM_001369148.2:c.558del	NP_001356077.1:p.Ser187ValfsTer?