Canonical Allele Identifier: CA608118165

Gene: SCARB1

Linked Data

• dbSNP Id: rs1293317578
• gnomAD v2: 12-125261440-AGG-A
• gnomAD v3: 12-124776894-AGG-A
• gnomAD v4: 12-124776894-AGG-A
• MyVariant Identifiers: chr12:g.125261441_125261442del (hg19) ; chr12:g.124776895_124776896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776895_124776896del , CM000674.2:g.124776895_124776896del	GRCh38
NC_000012.11:g.125261441_125261442del , CM000674.1:g.125261441_125261442del	GRCh37
NC_000012.10:g.123827394_123827395del	NCBI36
NG_028199.1:g.92078_92079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1691_*1692del MANE Select	ENSP00000261693.6:n.*1691_*1692del
ENST00000339570.9:c.*1571_*1572del	ENSP00000343795.4:n.*1571_*1572del
NM_005505.5:c.*1691_*1692del MANE Select	NP_005496.4:n.*1691_*1692del
NM_001082959.2:c.*1571_*1572del	NP_001076428.1:n.*1571_*1572del
NM_001367981.1:c.*1683_*1684del	NP_001354910.1:n.*1683_*1684del
NM_001367983.1:c.*1691_*1692del	NP_001354912.1:n.*1691_*1692del
NM_001367984.1:c.*1691_*1692del	NP_001354913.1:n.*1691_*1692del
NM_001367985.1:c.*1691_*1692del	NP_001354914.1:n.*1691_*1692del
NM_001367986.1:c.*1691_*1692del	NP_001354915.1:n.*1691_*1692del
NM_001367987.1:c.*1571_*1572del	NP_001354916.1:n.*1571_*1572del
NM_001367988.1:c.*1691_*1692del	NP_001354917.1:n.*1691_*1692del
NM_001367989.1:c.*1702_*1703del	NP_001354918.1:n.*1702_*1703del
NR_160416.1:n.3366_3367del
NR_160417.1:n.3468_3469del
NR_160418.1:n.2927_2928del
NR_160419.1:n.3291_3292del
NR_160420.1:n.3120_3121del
NR_160421.1:n.3043_3044del
NR_160422.1:n.3249_3250del
NR_160423.1:n.3246_3247del
NR_160424.1:n.3231_3232del