Canonical Allele Identifier: CA324234
Gene: ALDH1B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214106
ClinVar RCV Id: RCV001722088
dbSNP Id: rs201408956
ExAC: 9:38396905 GC / G
gnomAD v2: 9-38396905-GC-G
gnomAD v3: 9-38396908-GC-G
gnomAD v4: 9-38396908-GC-G
MyVariant Identifiers: chr9:g.38396906del (hg19) chr9:g.38396909del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396909del , CM000671.2:g.38396909del GRCh38
NC_000009.11:g.38396906del , CM000671.1:g.38396906del GRCh37
NC_000009.10:g.38386906del NCBI36
NG_012253.1:g.9205del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1161del MANE Select ENSP00000366927.3:p.Gly388GlufsTer23
ENST00000377698.3:c.1161del ENSP00000366927.3:p.Gly388GlufsTer23
NM_000692.4:c.1161del NP_000683.3:p.Gly388GlufsTer23
XM_011517802.1:c.1161del XP_011516104.1:p.Gly388GlufsTer23
XM_011517802.2:c.1161del XP_011516104.1:p.Gly388GlufsTer23
NM_000692.5:c.1161del MANE Select NP_000683.3:p.Gly388GlufsTer23
Search 100 bp 5'
Search 100 bp 3'