Canonical Allele Identifier: CA2069464194

Gene: SCARB1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124776940_124776944delinsTTAGA , CM000674.2:g.124776940_124776944delinsTTAGA	GRCh38
NC_000012.11:g.125261486_125261490delinsTTAGA , CM000674.1:g.125261486_125261490delinsTTAGA	GRCh37
NC_000012.10:g.123827439_123827443delinsTTAGA	NCBI36
NG_028199.1:g.92030_92034delinsTCTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.*1643_*1647delinsTCTAA MANE Select	ENSP00000261693.6:n.*1643_*1647delinsTCTAA
ENST00000339570.9:c.*1523_*1527delinsTCTAA	ENSP00000343795.4:n.*1523_*1527delinsTCTAA
NM_005505.5:c.*1643_*1647delinsTCTAA MANE Select	NP_005496.4:n.*1643_*1647delinsTCTAA
NM_001082959.2:c.*1523_*1527delinsTCTAA	NP_001076428.1:n.*1523_*1527delinsTCTAA
NM_001367981.1:c.*1635_*1639delinsTCTAA	NP_001354910.1:n.*1635_*1639delinsTCTAA
NM_001367983.1:c.*1643_*1647delinsTCTAA	NP_001354912.1:n.*1643_*1647delinsTCTAA
NM_001367984.1:c.*1643_*1647delinsTCTAA	NP_001354913.1:n.*1643_*1647delinsTCTAA
NM_001367985.1:c.*1643_*1647delinsTCTAA	NP_001354914.1:n.*1643_*1647delinsTCTAA
NM_001367986.1:c.*1643_*1647delinsTCTAA	NP_001354915.1:n.*1643_*1647delinsTCTAA
NM_001367987.1:c.*1523_*1527delinsTCTAA	NP_001354916.1:n.*1523_*1527delinsTCTAA
NM_001367988.1:c.*1643_*1647delinsTCTAA	NP_001354917.1:n.*1643_*1647delinsTCTAA
NM_001367989.1:c.*1654_*1658delinsTCTAA	NP_001354918.1:n.*1654_*1658delinsTCTAA
NR_160416.1:n.3318_3322delinsTCTAA
NR_160417.1:n.3420_3424delinsTCTAA
NR_160418.1:n.2879_2883delinsTCTAA
NR_160419.1:n.3243_3247delinsTCTAA
NR_160420.1:n.3072_3076delinsTCTAA
NR_160421.1:n.2995_2999delinsTCTAA
NR_160422.1:n.3201_3205delinsTCTAA
NR_160423.1:n.3198_3202delinsTCTAA
NR_160424.1:n.3183_3187delinsTCTAA