Canonical Allele Identifier: CA2792364891
Gene: SLC22A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62999203_62999206del , CM000673.2:g.62999203_62999206del GRCh38
NC_000011.9:g.62766675_62766678del , CM000673.1:g.62766675_62766678del GRCh37
NC_000011.8:g.62523251_62523254del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336232.7:c.593-117_593-114del MANE Select ENSP00000337335.2:n.593-117_593-114del
ENST00000311438.12:c.593-117_593-114del ENSP00000311463.8:n.593-117_593-114del
ENST00000336232.6:c.593-117_593-114del ENSP00000337335.2:n.593-117_593-114del
ENST00000430500.6:c.593-117_593-114del ENSP00000398548.2:n.593-117_593-114del
ENST00000535878.5:c.224-117_224-114del ENSP00000443368.1:n.224-117_224-114del
ENST00000539841.1:n.294_297del
ENST00000542795.5:n.314-117_314-114del
ENST00000542904.1:n.433-117_433-114del
ENST00000545207.5:c.320-117_320-114del ENSP00000441658.1:n.320-117_320-114del
NM_001184732.1:c.593-117_593-114del NP_001171661.1:n.593-117_593-114del
NM_001184733.1:c.320-117_320-114del NP_001171662.1:n.320-117_320-114del
NM_001184736.1:c.224-117_224-114del NP_001171665.1:n.224-117_224-114del
NM_004254.3:c.593-117_593-114del NP_004245.2:n.593-117_593-114del
XM_011545364.1:c.224-117_224-114del XP_011543666.1:n.224-117_224-114del
NM_004254.4:c.593-117_593-114del MANE Select NP_004245.2:n.593-117_593-114del
NM_001184732.2:c.593-117_593-114del NP_001171661.1:n.593-117_593-114del
NM_001184733.2:c.320-117_320-114del NP_001171662.1:n.320-117_320-114del
NM_001184736.2:c.224-117_224-114del NP_001171665.1:n.224-117_224-114del