Canonical Allele Identifier: CA2574655497

Gene: ALDH18A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95627546_95627548del , CM000672.2:g.95627546_95627548del	GRCh38
NC_000010.10:g.97387303_97387305del , CM000672.1:g.97387303_97387305del	GRCh37
NC_000010.9:g.97377293_97377295del	NCBI36
NG_012258.1:g.34267_34269del

Transcript Alleles

HGVS	Amino-acid Change
NM_002860.4:c.976_978del MANE Select	NP_002851.2:p.Val326del
ENST00000371224.7:c.976_978del MANE Select	ENSP00000360268.2:p.Val326del
NM_001017423.1:c.970_972del	NP_001017423.1:p.Val324del
NM_001017423.2:c.970_972del	NP_001017423.1:p.Val324del
NM_001323412.1:c.643_645del	NP_001310341.1:p.Val215del
NM_001323412.2:c.643_645del	NP_001310341.1:p.Val215del
NM_001323413.1:c.976_978del	NP_001310342.1:p.Val326del
NM_001323413.2:c.976_978del	NP_001310342.1:p.Val326del
NM_001323414.1:c.976_978del	NP_001310343.1:p.Val326del
NM_001323414.2:c.976_978del	NP_001310343.1:p.Val326del
NM_001323415.1:c.970_972del	NP_001310344.1:p.Val324del
NM_001323415.2:c.970_972del	NP_001310344.1:p.Val324del
NM_001323416.1:c.643_645del	NP_001310345.1:p.Val215del
NM_001323416.2:c.643_645del	NP_001310345.1:p.Val215del
NM_001323417.1:c.871_873del	NP_001310346.1:p.Val291del
NM_001323417.2:c.871_873del	NP_001310346.1:p.Val291del
NM_001323418.1:c.637_639del	NP_001310347.1:p.Val213del
NM_001323418.2:c.637_639del	NP_001310347.1:p.Val213del
NM_001323419.1:c.340_342del	NP_001310348.1:p.Val114del
NM_001323419.2:c.340_342del	NP_001310348.1:p.Val114del
NM_002860.3:c.976_978del	NP_002851.2:p.Val326del
ENST00000371221.3:c.970_972del	ENSP00000360265.3:p.Val324del
ENST00000371224.6:c.976_978del	ENSP00000360268.2:p.Val326del
ENST00000489386.1:n.341_343del
XM_006717933.1:c.976_978del	XP_006717996.1:p.Val326del
XM_011540001.1:c.643_645del	XP_011538303.1:p.Val215del
XM_024448094.1:c.976_978del	XP_024303862.1:p.Val326del
XM_024448095.1:c.976_978del	XP_024303863.1:p.Val326del
XM_024448096.1:c.970_972del	XP_024303864.1:p.Val324del
XM_024448097.1:c.643_645del	XP_024303865.1:p.Val215del