Canonical Allele Identifier: CA2808714098

Gene: ALDH3A2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.19671901_19671902insCCAAACACACCCAACAC , CM000679.2:g.19671901_19671902insCCAAACACACCCAACAC	GRCh38
NC_000017.10:g.19575214_19575215insCCAAACACACCCAACAC , CM000679.1:g.19575214_19575215insCCAAACACACCCAACAC	GRCh37
NC_000017.9:g.19515806_19515807insCCAAACACACCCAACAC	NCBI36
NG_007095.2:g.28151_28152insCCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000176643.11:c.1388_1389insCCAAACACACCCAACAC MANE Select	ENSP00000176643.6:p.Lys463AsnfsTer19
ENST00000395575.7:c.1061_1062insCCAAACACACCCAACAC	ENSP00000378942.3:p.Lys354AsnfsTer19
ENST00000472059.6:c.*946_*947insCCAAACACACCCAACAC	ENSP00000458397.1:n.*946_*947insCCAAACACACCCAACAC
ENST00000571163.2:c.227-3595_227-3594insCCAAACACACCCAACAC	ENSP00000459977.2:n.227-3595_227-3594insCCAAACACACCCAACAC
ENST00000573947.2:c.188_189insCCAAACACACCCAACAC	ENSP00000462933.2:p.Lys63AsnfsTer19
ENST00000574078.3:n.717_718insCCAAACACACCCAACAC
ENST00000581518.6:c.1388_1389insCCAAACACACCCAACAC	ENSP00000461916.2:p.Lys463AsnfsTer19
ENST00000582991.6:c.*106_*107insCCAAACACACCCAACAC	ENSP00000464153.1:n.*106_*107insCCAAACACACCCAACAC
ENST00000671878.1:c.1388_1389insCCAAACACACCCAACAC	ENSP00000500516.1:p.Lys463AsnfsTer19
ENST00000672059.1:n.1739_1740insCCAAACACACCCAACAC
ENST00000672357.1:c.1388_1389insCCAAACACACCCAACAC	ENSP00000500092.1:p.Lys463AsnfsTer19
ENST00000672465.1:c.1388_1389insCCAAACACACCCAACAC	ENSP00000500517.1:p.Lys463AsnfsTer19
ENST00000672487.1:c.*568_*569insCCAAACACACCCAACAC	ENSP00000500740.1:n.*568_*569insCCAAACACACCCAACAC
ENST00000672564.1:n.3057_3058insCCAAACACACCCAACAC
ENST00000672567.1:c.1098+6854_1098+6855insCCAAACACACCCAACAC
ENST00000672591.1:c.448_449insCCAAACACACCCAACAC
ENST00000672608.1:n.2377_2378insCCAAACACACCCAACAC
ENST00000672709.1:c.1242_1243insCCAAACACACCCAACAC
ENST00000673064.1:n.1888_1889insCCAAACACACCCAACAC
ENST00000673136.1:c.1208-3595_1208-3594insCCAAACACACCCAACAC	ENSP00000500380.1:n.1208-3595_1208-3594insCCAAACACACCCAACAC
ENST00000673472.1:n.1724_1725insCCAAACACACCCAACAC
ENST00000673516.1:n.1848_1849insCCAAACACACCCAACAC
ENST00000176643.10:c.1388_1389insCCAAACACACCCAACAC	ENSP00000176643.6:p.Lys463AsnfsTer19
ENST00000339618.8:c.1388_1389insCCAAACACACCCAACAC	ENSP00000345774.4:p.Lys463AsnfsTer19
ENST00000395575.6:c.1388_1389insCCAAACACACCCAACAC	ENSP00000378942.2:p.Lys463AsnfsTer19
ENST00000472059.5:c.*946_*947insCCAAACACACCCAACAC	ENSP00000458397.1:n.*946_*947insCCAAACACACCCAACAC
ENST00000476965.5:n.1138_1139insCCAAACACACCCAACAC
ENST00000571163.1:c.227-3657_227-3656insCCAAACACACCCAACAC	ENSP00000459977.1:n.227-3657_227-3656insCCAAACACACCCAACAC
ENST00000573565.1:c.103_104insCCAAACACACCCAACAC
ENST00000573947.1:c.295_296insCCAAACACACCCAACAC	ENSP00000462933.1:n.295_296insCCAAACACACCCAACAC
ENST00000575384.2:c.134_135insCCAAACACACCCAACAC	ENSP00000461235.2:p.Lys45AsnfsTer19
ENST00000579855.5:c.1388_1389insCCAAACACACCCAACAC	ENSP00000463637.1:p.Lys463AsnfsTer19
ENST00000581518.5:c.1388_1389insCCAAACACACCCAACAC	ENSP00000461916.1:p.Lys463AsnfsTer19
ENST00000582991.5:c.*106_*107insCCAAACACACCCAACAC	ENSP00000464153.1:n.*106_*107insCCAAACACACCCAACAC
ENST00000630662.2:c.227-3657_227-3656insCCAAACACACCCAACAC	ENSP00000487353.1:n.227-3657_227-3656insCCAAACACACCCAACAC
ENST00000631291.2:c.*106_*107insCCAAACACACCCAACAC	ENSP00000486085.1:n.*106_*107insCCAAACACACCCAACAC
NM_000382.2:c.1388_1389insCCAAACACACCCAACAC	NP_000373.1:p.Lys463AsnfsTer19
NM_001031806.1:c.1388_1389insCCAAACACACCCAACAC	NP_001026976.1:p.Lys463AsnfsTer19
XM_011523732.1:c.1388_1389insCCAAACACACCCAACAC	XP_011522034.1:p.Lys463AsnfsTer19
XM_011523733.1:c.1388_1389insCCAAACACACCCAACAC	XP_011522035.1:p.Lys463AsnfsTer19
XM_011523733.2:c.1388_1389insCCAAACACACCCAACAC	XP_011522035.1:p.Lys463AsnfsTer19
XM_017024355.1:c.1208-3657_1208-3656insCCAAACACACCCAACAC	XP_016879844.1:n.1208-3657_1208-3656insCCAAACACACCCAACAC
XM_017024356.2:c.1388_1389insCCAAACACACCCAACAC	XP_016879845.1:p.Lys463AsnfsTer19
XM_017024357.1:c.1388_1389insCCAAACACACCCAACAC	XP_016879846.1:p.Lys463AsnfsTer19
XM_017024358.2:c.1208-3657_1208-3656insCCAAACACACCCAACAC	XP_016879847.1:n.1208-3657_1208-3656insCCAAACACACCCAACAC
XM_024450651.1:c.809_810insCCAAACACACCCAACAC	XP_024306419.1:p.Lys270AsnfsTer19
XM_024450652.1:c.809_810insCCAAACACACCCAACAC	XP_024306420.1:p.Lys270AsnfsTer19
NM_000382.3:c.1388_1389insCCAAACACACCCAACAC MANE Select	NP_000373.1:p.Lys463AsnfsTer19
NM_001031806.2:c.1388_1389insCCAAACACACCCAACAC	NP_001026976.1:p.Lys463AsnfsTer19
NM_001369136.1:c.1388_1389insCCAAACACACCCAACAC	NP_001356065.1:p.Lys463AsnfsTer19
NM_001369137.1:c.1388_1389insCCAAACACACCCAACAC	NP_001356066.1:p.Lys463AsnfsTer19
NM_001369138.1:c.1388_1389insCCAAACACACCCAACAC	NP_001356067.1:p.Lys463AsnfsTer19
NM_001369139.1:c.1388_1389insCCAAACACACCCAACAC	NP_001356068.1:p.Lys463AsnfsTer19
NM_001369146.1:c.1208-3657_1208-3656insCCAAACACACCCAACAC	NP_001356075.1:n.1208-3657_1208-3656insCCAAACACACCCAACAC
NM_001369148.1:c.809_810insCCAAACACACCCAACAC	NP_001356077.1:p.Lys270AsnfsTer19
NM_001369137.2:c.1388_1389insCCAAACACACCCAACAC	NP_001356066.1:p.Lys463AsnfsTer19
NM_001369138.2:c.1388_1389insCCAAACACACCCAACAC	NP_001356067.1:p.Lys463AsnfsTer19
NM_001369146.2:c.1208-3657_1208-3656insCCAAACACACCCAACAC	NP_001356075.1:n.1208-3657_1208-3656insCCAAACACACCCAACAC
NM_001369148.2:c.809_810insCCAAACACACCCAACAC	NP_001356077.1:p.Lys270AsnfsTer19