Canonical Allele Identifier: CA2636598214

Gene: ALDH3A2

Linked Data

• gnomAD v4: 17-19661144-TATAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19661146_19661150del , CM000679.2:g.19661146_19661150del	GRCh38
NC_000017.10:g.19564459_19564463del , CM000679.1:g.19564459_19564463del	GRCh37
NC_000017.9:g.19505051_19505055del	NCBI36
NG_007095.2:g.17396_17400del

Transcript Alleles

HGVS	Amino-acid change
ENST00000176643.11:c.818_822del MANE Select	ENSP00000176643.6:p.Ile273ArgfsTer4
ENST00000395575.7:c.491_495del	ENSP00000378942.3:p.Ile164ArgfsTer4
ENST00000472059.6:c.*376_*380del	ENSP00000458397.1:n.*376_*380del
ENST00000574078.3:n.147_151del
ENST00000581518.6:c.818_822del	ENSP00000461916.2:p.Ile273ArgfsTer4
ENST00000582991.6:c.818_822del	ENSP00000464153.1:p.Ile273ArgfsTer4
ENST00000671841.1:n.2497_2501del
ENST00000671878.1:c.818_822del	ENSP00000500516.1:p.Ile273ArgfsTer4
ENST00000672059.1:n.1269_1273del
ENST00000672357.1:c.818_822del	ENSP00000500092.1:p.Ile273ArgfsTer4
ENST00000672465.1:c.818_822del	ENSP00000500517.1:p.Ile273ArgfsTer4
ENST00000672487.1:c.700_*2del	ENSP00000500740.1:n.[c.700_*2del;Ter234Gl...
ENST00000672564.1:n.1039_1043del
ENST00000672567.1:c.709_713del
ENST00000672608.1:n.1807_1811del
ENST00000672709.1:c.672_676del
ENST00000673064.1:n.1318_1322del
ENST00000673136.1:c.818_822del	ENSP00000500380.1:p.Ile273ArgfsTer4
ENST00000673472.1:n.1154_1158del
ENST00000673516.1:n.1278_1282del
ENST00000176643.10:c.818_822del	ENSP00000176643.6:p.Ile273ArgfsTer4
ENST00000339618.8:c.818_822del	ENSP00000345774.4:p.Ile273ArgfsTer4
ENST00000395575.6:c.818_822del	ENSP00000378942.2:p.Ile273ArgfsTer4
ENST00000472059.5:c.*376_*380del	ENSP00000458397.1:n.*376_*380del
ENST00000476965.5:n.568_572del
ENST00000571537.1:c.311_315del	ENSP00000458942.1:p.Ile104ArgfsTer4
ENST00000574078.2:n.147_151del
ENST00000578696.1:c.249_253del
ENST00000579855.5:c.818_822del	ENSP00000463637.1:p.Ile273ArgfsTer4
ENST00000581518.5:c.818_822del	ENSP00000461916.1:p.Ile273ArgfsTer4
ENST00000582991.5:c.818_822del	ENSP00000464153.1:p.Ile273ArgfsTer4
ENST00000630662.2:c.-164_-160del	ENSP00000487353.1:n.-164_-160del
ENST00000631291.2:c.818_822del	ENSP00000486085.1:p.Ile273ArgfsTer4
NM_000382.2:c.818_822del	NP_000373.1:p.Ile273ArgfsTer4
NM_001031806.1:c.818_822del	NP_001026976.1:p.Ile273ArgfsTer4
XM_011523732.1:c.818_822del	XP_011522034.1:p.Ile273ArgfsTer4
XM_011523733.1:c.818_822del	XP_011522035.1:p.Ile273ArgfsTer4
XM_011523733.2:c.818_822del	XP_011522035.1:p.Ile273ArgfsTer4
XM_017024355.1:c.818_822del	XP_016879844.1:p.Ile273ArgfsTer4
XM_017024356.2:c.818_822del	XP_016879845.1:p.Ile273ArgfsTer4
XM_017024357.1:c.818_822del	XP_016879846.1:p.Ile273ArgfsTer4
XM_017024358.2:c.818_822del	XP_016879847.1:p.Ile273ArgfsTer4
XM_024450651.1:c.239_243del	XP_024306419.1:p.Ile80ArgfsTer4
XM_024450652.1:c.239_243del	XP_024306420.1:p.Ile80ArgfsTer4
NM_000382.3:c.818_822del MANE Select	NP_000373.1:p.Ile273ArgfsTer4
NM_001031806.2:c.818_822del	NP_001026976.1:p.Ile273ArgfsTer4
NM_001369136.1:c.818_822del	NP_001356065.1:p.Ile273ArgfsTer4
NM_001369137.1:c.818_822del	NP_001356066.1:p.Ile273ArgfsTer4
NM_001369138.1:c.818_822del	NP_001356067.1:p.Ile273ArgfsTer4
NM_001369139.1:c.818_822del	NP_001356068.1:p.Ile273ArgfsTer4
NM_001369146.1:c.818_822del	NP_001356075.1:p.Ile273ArgfsTer4
NM_001369148.1:c.239_243del	NP_001356077.1:p.Ile80ArgfsTer4
NM_001369137.2:c.818_822del	NP_001356066.1:p.Ile273ArgfsTer4
NM_001369138.2:c.818_822del	NP_001356067.1:p.Ile273ArgfsTer4
NM_001369146.2:c.818_822del	NP_001356075.1:p.Ile273ArgfsTer4
NM_001369148.2:c.239_243del	NP_001356077.1:p.Ile80ArgfsTer4