Canonical Allele Identifier: CA2069464133

Gene: SCARB1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776894_124776898delinsAGGAG , CM000674.2:g.124776894_124776898delinsAGGAG	GRCh38
NC_000012.11:g.125261440_125261444delinsAGGAG , CM000674.1:g.125261440_125261444delinsAGGAG	GRCh37
NC_000012.10:g.123827393_123827397delinsAGGAG	NCBI36
NG_028199.1:g.92076_92080delinsCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1689_*1693delinsCTCCT MANE Select	ENSP00000261693.6:n.*1689_*1693delinsCTCCT
ENST00000339570.9:c.*1569_*1573delinsCTCCT	ENSP00000343795.4:n.*1569_*1573delinsCTCCT
NM_005505.5:c.*1689_*1693delinsCTCCT MANE Select	NP_005496.4:n.*1689_*1693delinsCTCCT
NM_001082959.2:c.*1569_*1573delinsCTCCT	NP_001076428.1:n.*1569_*1573delinsCTCCT
NM_001367981.1:c.*1681_*1685delinsCTCCT	NP_001354910.1:n.*1681_*1685delinsCTCCT
NM_001367983.1:c.*1689_*1693delinsCTCCT	NP_001354912.1:n.*1689_*1693delinsCTCCT
NM_001367984.1:c.*1689_*1693delinsCTCCT	NP_001354913.1:n.*1689_*1693delinsCTCCT
NM_001367985.1:c.*1689_*1693delinsCTCCT	NP_001354914.1:n.*1689_*1693delinsCTCCT
NM_001367986.1:c.*1689_*1693delinsCTCCT	NP_001354915.1:n.*1689_*1693delinsCTCCT
NM_001367987.1:c.*1569_*1573delinsCTCCT	NP_001354916.1:n.*1569_*1573delinsCTCCT
NM_001367988.1:c.*1689_*1693delinsCTCCT	NP_001354917.1:n.*1689_*1693delinsCTCCT
NM_001367989.1:c.*1700_*1704delinsCTCCT	NP_001354918.1:n.*1700_*1704delinsCTCCT
NR_160416.1:n.3364_3368delinsCTCCT
NR_160417.1:n.3466_3470delinsCTCCT
NR_160418.1:n.2925_2929delinsCTCCT
NR_160419.1:n.3289_3293delinsCTCCT
NR_160420.1:n.3118_3122delinsCTCCT
NR_160421.1:n.3041_3045delinsCTCCT
NR_160422.1:n.3247_3251delinsCTCCT
NR_160423.1:n.3244_3248delinsCTCCT
NR_160424.1:n.3229_3233delinsCTCCT