Canonical Allele Identifier: CA1847333178
Gene: ALDH1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396791_38396792delinsTG , CM000671.2:g.38396791_38396792delinsTG GRCh38
NC_000009.11:g.38396788_38396789delinsTG , CM000671.1:g.38396788_38396789delinsTG GRCh37
NC_000009.10:g.38386788_38386789delinsTG NCBI36
NG_012253.1:g.9087_9088delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1043_1044delinsTG MANE Select ENSP00000366927.3:p.Val348=
ENST00000377698.3:c.1043_1044delinsTG ENSP00000366927.3:p.Val348=
NM_000692.4:c.1043_1044delinsTG NP_000683.3:p.Val348=
XM_011517802.1:c.1043_1044delinsTG XP_011516104.1:p.Val348=
XM_011517802.2:c.1043_1044delinsTG XP_011516104.1:p.Val348=
NM_000692.5:c.1043_1044delinsTG MANE Select NP_000683.3:p.Val348=
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