Canonical Allele Identifier: CA684805282

Gene: SCARB1

Linked Data

• dbSNP Id: rs1365897286
• gnomAD v3: 12-124777095-TTAAA-T
• gnomAD v4: 12-124777095-TTAAA-T
• MyVariant Identifiers: chr12:g.125261642_125261645del (hg19) ; chr12:g.124777096_124777099del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124777098_124777101del , CM000674.2:g.124777098_124777101del	GRCh38
NC_000012.11:g.125261644_125261647del , CM000674.1:g.125261644_125261647del	GRCh37
NC_000012.10:g.123827597_123827600del	NCBI36
NG_028199.1:g.91875_91878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1488_*1491del MANE Select	ENSP00000261693.6:n.*1488_*1491del
ENST00000339570.9:c.*1368_*1371del	ENSP00000343795.4:n.*1368_*1371del
NM_005505.5:c.*1488_*1491del MANE Select	NP_005496.4:n.*1488_*1491del
NM_001082959.2:c.*1368_*1371del	NP_001076428.1:n.*1368_*1371del
NM_001367981.1:c.*1480_*1483del	NP_001354910.1:n.*1480_*1483del
NM_001367983.1:c.*1488_*1491del	NP_001354912.1:n.*1488_*1491del
NM_001367984.1:c.*1488_*1491del	NP_001354913.1:n.*1488_*1491del
NM_001367985.1:c.*1488_*1491del	NP_001354914.1:n.*1488_*1491del
NM_001367986.1:c.*1488_*1491del	NP_001354915.1:n.*1488_*1491del
NM_001367987.1:c.*1368_*1371del	NP_001354916.1:n.*1368_*1371del
NM_001367988.1:c.*1488_*1491del	NP_001354917.1:n.*1488_*1491del
NM_001367989.1:c.*1499_*1502del	NP_001354918.1:n.*1499_*1502del
NR_160416.1:n.3163_3166del
NR_160417.1:n.3265_3268del
NR_160418.1:n.2724_2727del
NR_160419.1:n.3088_3091del
NR_160420.1:n.2917_2920del
NR_160421.1:n.2840_2843del
NR_160422.1:n.3046_3049del
NR_160423.1:n.3043_3046del
NR_160424.1:n.3028_3031del