Canonical Allele Identifier: CA1847333467
Gene: ALDH1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396903_38396905delinsCTG , CM000671.2:g.38396903_38396905delinsCTG GRCh38
NC_000009.11:g.38396900_38396902delinsCTG , CM000671.1:g.38396900_38396902delinsCTG GRCh37
NC_000009.10:g.38386900_38386902delinsCTG NCBI36
NG_012253.1:g.9199_9201delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1155_1157delinsCTG MANE Select ENSP00000366927.3:p.Leu385=
ENST00000377698.3:c.1155_1157delinsCTG ENSP00000366927.3:p.Leu385=
NM_000692.4:c.1155_1157delinsCTG NP_000683.3:p.Leu385=
XM_011517802.1:c.1155_1157delinsCTG XP_011516104.1:p.Leu385=
XM_011517802.2:c.1155_1157delinsCTG XP_011516104.1:p.Leu385=
NM_000692.5:c.1155_1157delinsCTG MANE Select NP_000683.3:p.Leu385=