Canonical Allele Identifier: CA684825702

Gene: SCARB1

Linked Data

• dbSNP Id: rs1325867527
• gnomAD v3: 12-124836385-ATC-A
• gnomAD v4: 12-124836385-ATC-A
• MyVariant Identifiers: chr12:g.125320932_125320933del (hg19) ; chr12:g.124836386_124836387del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.124836390_124836391del , CM000674.2:g.124836390_124836391del	GRCh38
NC_000012.11:g.125320936_125320937del , CM000674.1:g.125320936_125320937del	GRCh37
NC_000012.10:g.123886889_123886890del	NCBI36
NG_028199.1:g.32587_32588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261693.11:c.127-18680_127-18679del MANE Select	ENSP00000261693.6:n.127-18680_127-18679del
ENST00000539320.3:n.360-18680_360-18679del
ENST00000679605.1:c.127-18680_127-18679del	ENSP00000505370.1:n.127-18680_127-18679del
ENST00000680556.1:c.127-18680_127-18679del	ENSP00000505757.1:n.127-18680_127-18679del
ENST00000680596.1:c.127-18680_127-18679del	ENSP00000505605.1:n.127-18680_127-18679del
ENST00000680926.1:c.127-18680_127-18679del	ENSP00000505571.1:n.127-18680_127-18679del
ENST00000680982.1:c.*110-18680_*110-18679del	ENSP00000506281.1:n.*110-18680_*110-18679del
ENST00000681117.1:c.127-18680_127-18679del	ENSP00000506693.1:n.127-18680_127-18679del
ENST00000681686.1:c.127-18680_127-18679del	ENSP00000505406.1:n.127-18680_127-18679del
ENST00000261693.10:c.127-18680_127-18679del	ENSP00000261693.6:n.127-18680_127-18679del
ENST00000339570.9:c.127-18680_127-18679del	ENSP00000343795.4:n.127-18680_127-18679del
ENST00000415380.6:c.127-18680_127-18679del	ENSP00000414979.2:n.127-18680_127-18679del
ENST00000535005.5:n.442-18680_442-18679del
ENST00000538291.5:n.270-18680_270-18679del
ENST00000539320.2:n.421-18680_421-18679del
ENST00000541661.5:n.168-18680_168-18679del
ENST00000545493.1:c.127-18680_127-18679del	ENSP00000443454.1:n.127-18680_127-18679del
ENST00000546215.5:c.127-18680_127-18679del	ENSP00000442862.1:n.127-18680_127-18679del
NM_001082959.1:c.127-18680_127-18679del	NP_001076428.1:n.127-18680_127-18679del
NM_005505.4:c.127-18680_127-18679del	NP_005496.4:n.127-18680_127-18679del
NM_005505.5:c.127-18680_127-18679del MANE Select	NP_005496.4:n.127-18680_127-18679del
NM_001082959.2:c.127-18680_127-18679del	NP_001076428.1:n.127-18680_127-18679del
NM_001367981.1:c.127-18680_127-18679del	NP_001354910.1:n.127-18680_127-18679del
NM_001367982.1:c.3+2857_3+2858del	NP_001354911.1:n.3+2857_3+2858del
NM_001367983.1:c.127-18680_127-18679del	NP_001354912.1:n.127-18680_127-18679del
NM_001367984.1:c.127-18680_127-18679del	NP_001354913.1:n.127-18680_127-18679del
NM_001367985.1:c.127-18680_127-18679del	NP_001354914.1:n.127-18680_127-18679del
NM_001367986.1:c.127-18680_127-18679del	NP_001354915.1:n.127-18680_127-18679del
NM_001367987.1:c.127-18680_127-18679del	NP_001354916.1:n.127-18680_127-18679del
NM_001367988.1:c.127-18680_127-18679del	NP_001354917.1:n.127-18680_127-18679del
NM_001367989.1:c.127-18680_127-18679del	NP_001354918.1:n.127-18680_127-18679del
NR_160416.1:n.271-18680_271-18679del
NR_160417.1:n.271-18680_271-18679del
NR_160418.1:n.271-18680_271-18679del
NR_160419.1:n.271-18680_271-18679del
NR_160420.1:n.271-18680_271-18679del
NR_160421.1:n.271-18680_271-18679del
NR_160422.1:n.271-18680_271-18679del
NR_160423.1:n.271-18680_271-18679del
NR_160424.1:n.271-18680_271-18679del