Canonical Allele Identifier: CA2690019375
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396505-G-GCCCAACAGCAGGTGCGGCCATCGCCCAGCACA
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396505_38396506insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA , CM000671.2:g.38396505_38396506insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA GRCh38
NC_000009.11:g.38396502_38396503insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA , CM000671.1:g.38396502_38396503insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA GRCh37
NC_000009.10:g.38386502_38386503insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA NCBI36
NG_012253.1:g.8801_8802insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.757_758insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA MANE Select ENSP00000366927.3:p.Val253AlafsTer28
ENST00000377698.3:c.757_758insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA ENSP00000366927.3:p.Val253AlafsTer28
NM_000692.4:c.757_758insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA NP_000683.3:p.Val253AlafsTer28
XM_011517802.1:c.757_758insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA XP_011516104.1:p.Val253AlafsTer28
XM_011517802.2:c.757_758insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA XP_011516104.1:p.Val253AlafsTer28
NM_000692.5:c.757_758insCCCAACAGCAGGTGCGGCCATCGCCCAGCACA MANE Select NP_000683.3:p.Val253AlafsTer28
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