Canonical Allele Identifier: CA2797847065
Gene: SCARB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.124776933del , CM000674.2:g.124776933del GRCh38
NC_000012.11:g.125261479del , CM000674.1:g.125261479del GRCh37
NC_000012.10:g.123827432del NCBI36
NG_028199.1:g.92043del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261693.11:c.*1656del MANE Select ENSP00000261693.6:n.*1656del
ENST00000339570.9:c.*1536del ENSP00000343795.4:n.*1536del
NM_005505.5:c.*1656del MANE Select NP_005496.4:n.*1656del
NM_001082959.2:c.*1536del NP_001076428.1:n.*1536del
NM_001367981.1:c.*1648del NP_001354910.1:n.*1648del
NM_001367983.1:c.*1656del NP_001354912.1:n.*1656del
NM_001367984.1:c.*1656del NP_001354913.1:n.*1656del
NM_001367985.1:c.*1656del NP_001354914.1:n.*1656del
NM_001367986.1:c.*1656del NP_001354915.1:n.*1656del
NM_001367987.1:c.*1536del NP_001354916.1:n.*1536del
NM_001367988.1:c.*1656del NP_001354917.1:n.*1656del
NM_001367989.1:c.*1667del NP_001354918.1:n.*1667del
NR_160416.1:n.3331del
NR_160417.1:n.3433del
NR_160418.1:n.2892del
NR_160419.1:n.3256del
NR_160420.1:n.3085del
NR_160421.1:n.3008del
NR_160422.1:n.3214del
NR_160423.1:n.3211del
NR_160424.1:n.3196del