Canonical Allele Identifier: CA116569
Gene: ALDH4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.18902503del
GRCh37 chr1:g.19228997del
gnomAD v2:
1:19228996 GC / G
gnomAD v3:
1:18902502 GC / G
gnomAD v4:
chr1-18902502-GC-G
Joint Max Group AF 0.00009341 (NFE)
Genomes Max Group AF 0.00006806 (NFE)
Exomes Max Group AF 0.00009105 (NFE)
ClinVar RCV:
RCV000004211
RCV002288462
ClinVar Variation:
4004
dbSNP:
387906314
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18902503del , CM000663.2:g.18902503del GRCh38
NC_000001.10:g.19228997del , CM000663.1:g.19228997del GRCh37
NC_000001.9:g.19101584del NCBI36
NG_012283.1:g.5297del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375341.8:c.21del MANE Select ENSP00000364490.3:p.Leu8SerfsTer23
ENST00000290597.9:c.21del ENSP00000290597.5:p.Leu8SerfsTer23
ENST00000375341.7:c.21del ENSP00000364490.3:p.Leu8SerfsTer23
ENST00000432718.1:c.21del ENSP00000393209.1:p.Leu8SerfsTer23
ENST00000494072.3:c.911+6036del
ENST00000538839.5:c.21del ENSP00000446071.1:p.Leu8SerfsTer23
NM_003748.3:c.21del NP_003739.2:p.Leu8SerfsTer23
NM_170726.2:c.21del NP_733844.1:p.Leu8SerfsTer23
XM_011542352.1:c.21del XP_011540654.1:p.Leu8SerfsTer23
XM_011542353.1:c.21del XP_011540655.1:p.Leu8SerfsTer23
XR_946786.1:n.78del
NM_001319218.1:c.21del NP_001306147.1:p.Leu8SerfsTer23
XR_001737510.1:n.78del
NM_003748.4:c.21del MANE Select NP_003739.2:p.Leu8SerfsTer23
NM_170726.3:c.21del NP_733844.1:p.Leu8SerfsTer23
NM_001319218.2:c.21del NP_001306147.1:p.Leu8SerfsTer23
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