Canonical Allele Identifier: CA2621772672

Gene: SCARB1

Linked Data

• gnomAD v4: 12-124800045-TGCCTGGGGAGAGAGGAGGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124800049_124800068del , CM000674.2:g.124800049_124800068del	GRCh38
NC_000012.11:g.125284595_125284614del , CM000674.1:g.125284595_125284614del	GRCh37
NC_000012.10:g.123850548_123850567del	NCBI36
NG_028199.1:g.68909_68928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.1128+59_1128+78del MANE Select	ENSP00000261693.6:n.1128+59_1128+78del
ENST00000679605.1:c.*128+7696_*128+7715del	ENSP00000505370.1:n.*128+7696_*128+7715del
ENST00000679955.1:n.2852+59_2852+78del
ENST00000680556.1:c.1004+7701_1004+7720del	ENSP00000505757.1:n.1004+7701_1004+7720del
ENST00000680596.1:c.1104+59_1104+78del	ENSP00000505605.1:n.1104+59_1104+78del
ENST00000680926.1:c.*76+59_*76+78del	ENSP00000505571.1:n.*76+59_*76+78del
ENST00000680982.1:c.*1111+59_*1111+78del	ENSP00000506281.1:n.*1111+59_*1111+78del
ENST00000681117.1:c.*247+59_*247+78del	ENSP00000506693.1:n.*247+59_*247+78del
ENST00000681499.1:n.1001+59_1001+78del
ENST00000681555.1:n.818+59_818+78del
ENST00000681686.1:c.1128+59_1128+78del	ENSP00000505406.1:n.1128+59_1128+78del
ENST00000261693.10:c.1128+59_1128+78del	ENSP00000261693.6:n.1128+59_1128+78del
ENST00000339570.9:c.1128+59_1128+78del	ENSP00000343795.4:n.1128+59_1128+78del
ENST00000415380.6:c.1128+59_1128+78del	ENSP00000414979.2:n.1128+59_1128+78del
ENST00000535005.5:n.1443+59_1443+78del
ENST00000538291.5:n.1271+59_1271+78del
ENST00000544327.1:c.966+59_966+78del	ENSP00000444851.1:n.966+59_966+78del
ENST00000546215.5:c.1128+59_1128+78del	ENSP00000442862.1:n.1128+59_1128+78del
NM_001082959.1:c.1128+59_1128+78del	NP_001076428.1:n.1128+59_1128+78del
NM_005505.4:c.1128+59_1128+78del	NP_005496.4:n.1128+59_1128+78del
NM_005505.5:c.1128+59_1128+78del MANE Select	NP_005496.4:n.1128+59_1128+78del
NM_001082959.2:c.1128+59_1128+78del	NP_001076428.1:n.1128+59_1128+78del
NM_001367981.1:c.1128+59_1128+78del	NP_001354910.1:n.1128+59_1128+78del
NM_001367982.1:c.1005+59_1005+78del	NP_001354911.1:n.1005+59_1005+78del
NM_001367983.1:c.1128+59_1128+78del	NP_001354912.1:n.1128+59_1128+78del
NM_001367984.1:c.1128+59_1128+78del	NP_001354913.1:n.1128+59_1128+78del
NM_001367985.1:c.1104+59_1104+78del	NP_001354914.1:n.1104+59_1104+78del
NM_001367986.1:c.1128+59_1128+78del	NP_001354915.1:n.1128+59_1128+78del
NM_001367987.1:c.1004+7701_1004+7720del	NP_001354916.1:n.1004+7701_1004+7720del
NM_001367988.1:c.727-4797_727-4778del	NP_001354917.1:n.727-4797_727-4778del
NM_001367989.1:c.1128+59_1128+78del	NP_001354918.1:n.1128+59_1128+78del
NR_160416.1:n.1272+59_1272+78del
NR_160417.1:n.1272+59_1272+78del
NR_160418.1:n.1037+7696_1037+7715del
NR_160419.1:n.1272+59_1272+78del
NR_160420.1:n.1156+59_1156+78del
NR_160421.1:n.1153+7696_1153+7715del
NR_160422.1:n.1156+59_1156+78del
NR_160423.1:n.1154-4797_1154-4778del
NR_160424.1:n.1267+59_1267+78del