Canonical Allele Identifier: CA1847332462
Gene: ALDH1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396496_38396497delinsGC , CM000671.2:g.38396496_38396497delinsGC GRCh38
NC_000009.11:g.38396493_38396494delinsGC , CM000671.1:g.38396493_38396494delinsGC GRCh37
NC_000009.10:g.38386493_38386494delinsGC NCBI36
NG_012253.1:g.8792_8793delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.748_749delinsGC MANE Select ENSP00000366927.3:p.Ala250=
ENST00000377698.3:c.748_749delinsGC ENSP00000366927.3:p.Ala250=
NM_000692.4:c.748_749delinsGC NP_000683.3:p.Ala250=
XM_011517802.1:c.748_749delinsGC XP_011516104.1:p.Ala250=
XM_011517802.2:c.748_749delinsGC XP_011516104.1:p.Ala250=
NM_000692.5:c.748_749delinsGC MANE Select NP_000683.3:p.Ala250=
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