Canonical Allele Identifier: CA2580082577

Gene: ALDH18A1

Linked Data

• ClinVar Variation Id: 1914489
• ClinVar RCV Id: RCV003776636

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95637097_95637098delinsAA , CM000672.2:g.95637097_95637098delinsAA	GRCh38
NC_000010.10:g.97396854_97396855delinsAA , CM000672.1:g.97396854_97396855delinsAA	GRCh37
NC_000010.9:g.97386844_97386845delinsAA	NCBI36
NG_012258.1:g.24713_24714delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371224.7:c.553_554delinsTT MANE Select	ENSP00000360268.2:p.Ala185Phe
ENST00000371221.3:c.553_554delinsTT	ENSP00000360265.3:p.Ala185Phe
ENST00000371224.6:c.553_554delinsTT	ENSP00000360268.2:p.Ala185Phe
ENST00000483788.1:n.745_746delinsTT
NM_001017423.1:c.553_554delinsTT	NP_001017423.1:p.Ala185Phe
NM_002860.3:c.553_554delinsTT	NP_002851.2:p.Ala185Phe
XM_006717933.1:c.553_554delinsTT	XP_006717996.1:p.Ala185Phe
XM_011540001.1:c.220_221delinsTT	XP_011538303.1:p.Ala74Phe
NM_001323412.1:c.220_221delinsTT	NP_001310341.1:p.Ala74Phe
NM_001323413.1:c.553_554delinsTT	NP_001310342.1:p.Ala185Phe
NM_001323414.1:c.553_554delinsTT	NP_001310343.1:p.Ala185Phe
NM_001323415.1:c.553_554delinsTT	NP_001310344.1:p.Ala185Phe
NM_001323416.1:c.220_221delinsTT	NP_001310345.1:p.Ala74Phe
NM_001323417.1:c.453+189_453+190delinsTT	NP_001310346.1:n.453+189_453+190delinsTT
NM_001323418.1:c.220_221delinsTT	NP_001310347.1:p.Ala74Phe
NM_001323419.1:c.-78-3449_-78-3448delinsTT	NP_001310348.1:n.-78-3449_-78-3448delinsTT
XM_024448094.1:c.553_554delinsTT	XP_024303862.1:p.Ala185Phe
XM_024448095.1:c.553_554delinsTT	XP_024303863.1:p.Ala185Phe
XM_024448096.1:c.553_554delinsTT	XP_024303864.1:p.Ala185Phe
XM_024448097.1:c.220_221delinsTT	XP_024303865.1:p.Ala74Phe
NM_002860.4:c.553_554delinsTT MANE Select	NP_002851.2:p.Ala185Phe
NM_001017423.2:c.553_554delinsTT	NP_001017423.1:p.Ala185Phe
NM_001323412.2:c.220_221delinsTT	NP_001310341.1:p.Ala74Phe
NM_001323413.2:c.553_554delinsTT	NP_001310342.1:p.Ala185Phe
NM_001323414.2:c.553_554delinsTT	NP_001310343.1:p.Ala185Phe
NM_001323415.2:c.553_554delinsTT	NP_001310344.1:p.Ala185Phe
NM_001323416.2:c.220_221delinsTT	NP_001310345.1:p.Ala74Phe
NM_001323417.2:c.453+189_453+190delinsTT	NP_001310346.1:n.453+189_453+190delinsTT
NM_001323418.2:c.220_221delinsTT	NP_001310347.1:p.Ala74Phe
NM_001323419.2:c.-78-3449_-78-3448delinsTT	NP_001310348.1:n.-78-3449_-78-3448delinsTT