Canonical Allele Identifier: CA726776370

Gene: ALDH3A2

Linked Data

• dbSNP Id: rs1290523476
• gnomAD v3: 17-19672120-AAC-A
• gnomAD v4: 17-19672120-AAC-A
• MyVariant Identifiers: chr17:g.19575434_19575435del (hg19) ; chr17:g.19672121_19672122del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19672124_19672125del , CM000679.2:g.19672124_19672125del	GRCh38
NC_000017.10:g.19575437_19575438del , CM000679.1:g.19575437_19575438del	GRCh37
NC_000017.9:g.19516029_19516030del	NCBI36
NG_007095.2:g.28374_28375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.1443+168_1443+169del MANE Select	ENSP00000176643.6:n.1443+168_1443+169del
ENST00000395575.7:c.1116+168_1116+169del	ENSP00000378942.3:n.1116+168_1116+169del
ENST00000472059.6:c.*1001+168_*1001+169del	ENSP00000458397.1:n.*1001+168_*1001+169del
ENST00000571163.2:c.227-3372_227-3371del	ENSP00000459977.2:n.227-3372_227-3371del
ENST00000573947.2:c.243+168_243+169del	ENSP00000462933.2:n.243+168_243+169del
ENST00000574078.3:n.772+168_772+169del
ENST00000581518.6:c.1443+168_1443+169del	ENSP00000461916.2:n.1443+168_1443+169del
ENST00000582991.6:c.*161+168_*161+169del	ENSP00000464153.1:n.*161+168_*161+169del
ENST00000671878.1:c.1443+168_1443+169del	ENSP00000500516.1:n.1443+168_1443+169del
ENST00000672059.1:n.1794+168_1794+169del
ENST00000672357.1:c.1443+168_1443+169del	ENSP00000500092.1:n.1443+168_1443+169del
ENST00000672465.1:c.1443+168_1443+169del	ENSP00000500517.1:n.1443+168_1443+169del
ENST00000672487.1:c.*623+168_*623+169del	ENSP00000500740.1:n.*623+168_*623+169del
ENST00000672564.1:n.3112+168_3112+169del
ENST00000672567.1:c.1098+7077_1098+7078del
ENST00000672591.1:c.503+168_503+169del
ENST00000672608.1:n.2432+168_2432+169del
ENST00000672709.1:c.1297+168_1297+169del
ENST00000673064.1:n.2111_2112del
ENST00000673136.1:c.1208-3372_1208-3371del	ENSP00000500380.1:n.1208-3372_1208-3371del
ENST00000673472.1:n.1779+168_1779+169del
ENST00000673516.1:n.1903+168_1903+169del
ENST00000176643.10:c.1443+168_1443+169del	ENSP00000176643.6:n.1443+168_1443+169del
ENST00000339618.8:c.1443+168_1443+169del	ENSP00000345774.4:n.1443+168_1443+169del
ENST00000395575.6:c.1443+168_1443+169del	ENSP00000378942.2:n.1443+168_1443+169del
ENST00000472059.5:c.*1001+168_*1001+169del	ENSP00000458397.1:n.*1001+168_*1001+169del
ENST00000476965.5:n.1193+168_1193+169del
ENST00000571163.1:c.227-3434_227-3433del	ENSP00000459977.1:n.227-3434_227-3433del
ENST00000573565.1:c.158+168_158+169del
ENST00000573947.1:c.350+168_350+169del	ENSP00000462933.1:n.350+168_350+169del
ENST00000575384.2:c.189+168_189+169del	ENSP00000461235.2:n.189+168_189+169del
ENST00000579855.5:c.1443+168_1443+169del	ENSP00000463637.1:n.1443+168_1443+169del
ENST00000581518.5:c.1443+168_1443+169del	ENSP00000461916.1:n.1443+168_1443+169del
ENST00000582991.5:c.*161+168_*161+169del	ENSP00000464153.1:n.*161+168_*161+169del
ENST00000630662.2:c.227-3434_227-3433del	ENSP00000487353.1:n.227-3434_227-3433del
ENST00000631291.2:c.*161+168_*161+169del	ENSP00000486085.1:n.*161+168_*161+169del
NM_000382.2:c.1443+168_1443+169del	NP_000373.1:n.1443+168_1443+169del
NM_001031806.1:c.1443+168_1443+169del	NP_001026976.1:n.1443+168_1443+169del
XM_011523732.1:c.1443+168_1443+169del	XP_011522034.1:n.1443+168_1443+169del
XM_011523733.1:c.1443+168_1443+169del	XP_011522035.1:n.1443+168_1443+169del
XM_011523733.2:c.1443+168_1443+169del	XP_011522035.1:n.1443+168_1443+169del
XM_017024355.1:c.1208-3434_1208-3433del	XP_016879844.1:n.1208-3434_1208-3433del
XM_017024356.2:c.1443+168_1443+169del	XP_016879845.1:n.1443+168_1443+169del
XM_017024357.1:c.1443+168_1443+169del	XP_016879846.1:n.1443+168_1443+169del
XM_017024358.2:c.1208-3434_1208-3433del	XP_016879847.1:n.1208-3434_1208-3433del
XM_024450651.1:c.864+168_864+169del	XP_024306419.1:n.864+168_864+169del
XM_024450652.1:c.864+168_864+169del	XP_024306420.1:n.864+168_864+169del
NM_000382.3:c.1443+168_1443+169del MANE Select	NP_000373.1:n.1443+168_1443+169del
NM_001031806.2:c.1443+168_1443+169del	NP_001026976.1:n.1443+168_1443+169del
NM_001369136.1:c.1443+168_1443+169del	NP_001356065.1:n.1443+168_1443+169del
NM_001369137.1:c.1443+168_1443+169del	NP_001356066.1:n.1443+168_1443+169del
NM_001369138.1:c.1443+168_1443+169del	NP_001356067.1:n.1443+168_1443+169del
NM_001369139.1:c.1443+168_1443+169del	NP_001356068.1:n.1443+168_1443+169del
NM_001369146.1:c.1208-3434_1208-3433del	NP_001356075.1:n.1208-3434_1208-3433del
NM_001369148.1:c.864+168_864+169del	NP_001356077.1:n.864+168_864+169del
NM_001369137.2:c.1443+168_1443+169del	NP_001356066.1:n.1443+168_1443+169del
NM_001369138.2:c.1443+168_1443+169del	NP_001356067.1:n.1443+168_1443+169del
NM_001369146.2:c.1208-3434_1208-3433del	NP_001356075.1:n.1208-3434_1208-3433del
NM_001369148.2:c.864+168_864+169del	NP_001356077.1:n.864+168_864+169del