Canonical Allele Identifier: CA2690019381
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396968del , CM000671.2:g.38396968del GRCh38
NC_000009.11:g.38396965del , CM000671.1:g.38396965del GRCh37
NC_000009.10:g.38386965del NCBI36
NG_012253.1:g.9264del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1220del MANE Select ENSP00000366927.3:p.Gln407ArgfsTer4
ENST00000377698.3:c.1220del ENSP00000366927.3:p.Gln407ArgfsTer4
NM_000692.4:c.1220del NP_000683.3:p.Gln407ArgfsTer4
XM_011517802.1:c.1220del XP_011516104.1:p.Gln407ArgfsTer4
XM_011517802.2:c.1220del XP_011516104.1:p.Gln407ArgfsTer4
NM_000692.5:c.1220del MANE Select NP_000683.3:p.Gln407ArgfsTer4