Canonical Allele Identifier: CA5064027
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs766924091
ExAC: 9:38396726 G / GGAA
gnomAD v2: 9-38396726-G-GGAA
gnomAD v4: 9-38396729-G-GGAA
MyVariant Identifiers: chr9:g.38396726_38396727insGAA (hg19) chr9:g.38396729_38396730insGAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396733_38396735dup , CM000671.2:g.38396733_38396735dup GRCh38
NC_000009.11:g.38396730_38396732dup , CM000671.1:g.38396730_38396732dup GRCh37
NC_000009.10:g.38386730_38386732dup NCBI36
NG_012253.1:g.9029_9031dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.985_987dup MANE Select ENSP00000366927.3:p.Glu329_Ser330insGlu
ENST00000377698.3:c.985_987dup ENSP00000366927.3:p.Glu329_Ser330insGlu
NM_000692.4:c.985_987dup NP_000683.3:p.Glu329_Ser330insGlu
XM_011517802.1:c.985_987dup XP_011516104.1:p.Glu329_Ser330insGlu
XM_011517802.2:c.985_987dup XP_011516104.1:p.Glu329_Ser330insGlu
NM_000692.5:c.985_987dup MANE Select NP_000683.3:p.Glu329_Ser330insGlu
Search 100 bp 5'
Search 100 bp 3'