Canonical Allele Identifier: CA1847333726
Gene: ALDH1B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396990_38396993delinsAGAG , CM000671.2:g.38396990_38396993delinsAGAG GRCh38
NC_000009.11:g.38396987_38396990delinsAGAG , CM000671.1:g.38396987_38396990delinsAGAG GRCh37
NC_000009.10:g.38386987_38386990delinsAGAG NCBI36
NG_012253.1:g.9286_9289delinsAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1242_1245delinsAGAG MANE Select ENSP00000366927.3:p.Lys414=
ENST00000377698.3:c.1242_1245delinsAGAG ENSP00000366927.3:p.Lys414=
NM_000692.4:c.1242_1245delinsAGAG NP_000683.3:p.Lys414=
XM_011517802.1:c.1242_1245delinsAGAG XP_011516104.1:p.Lys414=
XM_011517802.2:c.1242_1245delinsAGAG XP_011516104.1:p.Lys414=
NM_000692.5:c.1242_1245delinsAGAG MANE Select NP_000683.3:p.Lys414=
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