Canonical Allele Identifier: CA1847332643
Gene: ALDH1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396543_38396553delinsGGTGGGCCACC , CM000671.2:g.38396543_38396553delinsGGTGGGCCACC GRCh38
NC_000009.11:g.38396540_38396550delinsGGTGGGCCACC , CM000671.1:g.38396540_38396550delinsGGTGGGCCACC GRCh37
NC_000009.10:g.38386540_38386550delinsGGTGGGCCACC NCBI36
NG_012253.1:g.8839_8849delinsGGTGGGCCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.795_805delinsGGTGGGCCACC MANE Select ENSP00000366927.3:p.Glu265=
ENST00000377698.3:c.795_805delinsGGTGGGCCACC ENSP00000366927.3:p.Glu265=
NM_000692.4:c.795_805delinsGGTGGGCCACC NP_000683.3:p.Glu265=
XM_011517802.1:c.795_805delinsGGTGGGCCACC XP_011516104.1:p.Glu265=
XM_011517802.2:c.795_805delinsGGTGGGCCACC XP_011516104.1:p.Glu265=
NM_000692.5:c.795_805delinsGGTGGGCCACC MANE Select NP_000683.3:p.Glu265=