Canonical Allele Identifier: CA1847332819
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1821296290
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396610_38396612del , CM000671.2:g.38396610_38396612del GRCh38
NC_000009.11:g.38396607_38396609del , CM000671.1:g.38396607_38396609del GRCh37
NC_000009.10:g.38386607_38386609del NCBI36
NG_012253.1:g.8906_8908del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.862_864del MANE Select ENSP00000366927.3:p.Gly288del
ENST00000377698.3:c.862_864del ENSP00000366927.3:p.Gly288del
NM_000692.4:c.862_864del NP_000683.3:p.Gly288del
XM_011517802.1:c.862_864del XP_011516104.1:p.Gly288del
XM_011517802.2:c.862_864del XP_011516104.1:p.Gly288del
NM_000692.5:c.862_864del MANE Select NP_000683.3:p.Gly288del
Search 100 bp 5'
Search 100 bp 3'