Canonical Allele Identifier: CA5064034
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs554947716
ExAC: 9:38396773 CA / C
gnomAD v2: 9-38396773-CA-C
gnomAD v3: 9-38396776-CA-C
gnomAD v4: 9-38396776-CA-C
COSMIC: COSM1684167
MyVariant Identifiers: chr9:g.38396776del (hg19) chr9:g.38396774del (hg19) chr9:g.38396778del (hg38) chr9:g.38396777del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396779del , CM000671.2:g.38396779del GRCh38
NC_000009.11:g.38396776del , CM000671.1:g.38396776del GRCh37
NC_000009.10:g.38386776del NCBI36
NG_012253.1:g.9075del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1031del MANE Select ENSP00000366927.3:p.Lys344SerfsTer28
ENST00000377698.3:c.1031del ENSP00000366927.3:p.Lys344SerfsTer28
NM_000692.4:c.1031del NP_000683.3:p.Lys344SerfsTer28
XM_011517802.1:c.1031del XP_011516104.1:p.Lys344SerfsTer28
XM_011517802.2:c.1031del XP_011516104.1:p.Lys344SerfsTer28
NM_000692.5:c.1031del MANE Select NP_000683.3:p.Lys344SerfsTer28
Search 100 bp 5'
Search 100 bp 3'