Canonical Allele Identifier: CA588147963
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1208477859
gnomAD v2: 9-38396987-AGAG-A
gnomAD v3: 9-38396990-AGAG-A
gnomAD v4: 9-38396990-AGAG-A
MyVariant Identifiers: chr9:g.38396988_38396990del (hg19) chr9:g.38396991_38396993del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396994_38396996del , CM000671.2:g.38396994_38396996del GRCh38
NC_000009.11:g.38396991_38396993del , CM000671.1:g.38396991_38396993del GRCh37
NC_000009.10:g.38386991_38386993del NCBI36
NG_012253.1:g.9290_9292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1246_1248del MANE Select ENSP00000366927.3:p.Glu416del
ENST00000377698.3:c.1246_1248del ENSP00000366927.3:p.Glu416del
NM_000692.4:c.1246_1248del NP_000683.3:p.Glu416del
XM_011517802.1:c.1246_1248del XP_011516104.1:p.Glu416del
XM_011517802.2:c.1246_1248del XP_011516104.1:p.Glu416del
NM_000692.5:c.1246_1248del MANE Select NP_000683.3:p.Glu416del
Search 100 bp 5'
Search 100 bp 3'