Canonical Allele Identifier: CA2621772684

Gene: SCARB1

Linked Data

• gnomAD v4: 12-124800048-CTGGGGAGAGAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124800049_124800060del , CM000674.2:g.124800049_124800060del	GRCh38
NC_000012.11:g.125284595_125284606del , CM000674.1:g.125284595_125284606del	GRCh37
NC_000012.10:g.123850548_123850559del	NCBI36
NG_028199.1:g.68914_68925del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261693.11:c.1128+64_1128+75del MANE Select	ENSP00000261693.6:n.1128+64_1128+75del
ENST00000679605.1:c.*128+7701_*128+7712del	ENSP00000505370.1:n.*128+7701_*128+7712del
ENST00000679955.1:n.2852+64_2852+75del
ENST00000680556.1:c.1004+7706_1004+7717del	ENSP00000505757.1:n.1004+7706_1004+7717del
ENST00000680596.1:c.1104+64_1104+75del	ENSP00000505605.1:n.1104+64_1104+75del
ENST00000680926.1:c.*76+64_*76+75del	ENSP00000505571.1:n.*76+64_*76+75del
ENST00000680982.1:c.*1111+64_*1111+75del	ENSP00000506281.1:n.*1111+64_*1111+75del
ENST00000681117.1:c.*247+64_*247+75del	ENSP00000506693.1:n.*247+64_*247+75del
ENST00000681499.1:n.1001+64_1001+75del
ENST00000681555.1:n.818+64_818+75del
ENST00000681686.1:c.1128+64_1128+75del	ENSP00000505406.1:n.1128+64_1128+75del
ENST00000261693.10:c.1128+64_1128+75del	ENSP00000261693.6:n.1128+64_1128+75del
ENST00000339570.9:c.1128+64_1128+75del	ENSP00000343795.4:n.1128+64_1128+75del
ENST00000415380.6:c.1128+64_1128+75del	ENSP00000414979.2:n.1128+64_1128+75del
ENST00000535005.5:n.1443+64_1443+75del
ENST00000538291.5:n.1271+64_1271+75del
ENST00000544327.1:c.966+64_966+75del	ENSP00000444851.1:n.966+64_966+75del
ENST00000546215.5:c.1128+64_1128+75del	ENSP00000442862.1:n.1128+64_1128+75del
NM_001082959.1:c.1128+64_1128+75del	NP_001076428.1:n.1128+64_1128+75del
NM_005505.4:c.1128+64_1128+75del	NP_005496.4:n.1128+64_1128+75del
NM_005505.5:c.1128+64_1128+75del MANE Select	NP_005496.4:n.1128+64_1128+75del
NM_001082959.2:c.1128+64_1128+75del	NP_001076428.1:n.1128+64_1128+75del
NM_001367981.1:c.1128+64_1128+75del	NP_001354910.1:n.1128+64_1128+75del
NM_001367982.1:c.1005+64_1005+75del	NP_001354911.1:n.1005+64_1005+75del
NM_001367983.1:c.1128+64_1128+75del	NP_001354912.1:n.1128+64_1128+75del
NM_001367984.1:c.1128+64_1128+75del	NP_001354913.1:n.1128+64_1128+75del
NM_001367985.1:c.1104+64_1104+75del	NP_001354914.1:n.1104+64_1104+75del
NM_001367986.1:c.1128+64_1128+75del	NP_001354915.1:n.1128+64_1128+75del
NM_001367987.1:c.1004+7706_1004+7717del	NP_001354916.1:n.1004+7706_1004+7717del
NM_001367988.1:c.727-4792_727-4781del	NP_001354917.1:n.727-4792_727-4781del
NM_001367989.1:c.1128+64_1128+75del	NP_001354918.1:n.1128+64_1128+75del
NR_160416.1:n.1272+64_1272+75del
NR_160417.1:n.1272+64_1272+75del
NR_160418.1:n.1037+7701_1037+7712del
NR_160419.1:n.1272+64_1272+75del
NR_160420.1:n.1156+64_1156+75del
NR_160421.1:n.1153+7701_1153+7712del
NR_160422.1:n.1156+64_1156+75del
NR_160423.1:n.1154-4792_1154-4781del
NR_160424.1:n.1267+64_1267+75del