Canonical Allele Identifier: CA2621767717

Gene: SCARB1

Linked Data

• gnomAD v4: 12-124776989-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776993del , CM000674.2:g.124776993del	GRCh38
NC_000012.11:g.125261539del , CM000674.1:g.125261539del	GRCh37
NC_000012.10:g.123827492del	NCBI36
NG_028199.1:g.91984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1597del MANE Select	ENSP00000261693.6:n.*1597del
ENST00000339570.9:c.*1477del	ENSP00000343795.4:n.*1477del
NM_005505.5:c.*1597del MANE Select	NP_005496.4:n.*1597del
NM_001082959.2:c.*1477del	NP_001076428.1:n.*1477del
NM_001367981.1:c.*1589del	NP_001354910.1:n.*1589del
NM_001367983.1:c.*1597del	NP_001354912.1:n.*1597del
NM_001367984.1:c.*1597del	NP_001354913.1:n.*1597del
NM_001367985.1:c.*1597del	NP_001354914.1:n.*1597del
NM_001367986.1:c.*1597del	NP_001354915.1:n.*1597del
NM_001367987.1:c.*1477del	NP_001354916.1:n.*1477del
NM_001367988.1:c.*1597del	NP_001354917.1:n.*1597del
NM_001367989.1:c.*1608del	NP_001354918.1:n.*1608del
NR_160416.1:n.3272del
NR_160417.1:n.3374del
NR_160418.1:n.2833del
NR_160419.1:n.3197del
NR_160420.1:n.3026del
NR_160421.1:n.2949del
NR_160422.1:n.3155del
NR_160423.1:n.3152del
NR_160424.1:n.3137del