Canonical Allele Identifier: CA1469473876

Gene: SCARB2

Linked Data

• dbSNP Id: rs1732332030
• gnomAD v4: 4-76179406-ATAACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179412_76179416del , CM000666.2:g.76179412_76179416del	GRCh38
NC_000004.11:g.77100565_77100569del , CM000666.1:g.77100565_77100569del	GRCh37
NC_000004.10:g.77319589_77319593del	NCBI36
NG_012054.1:g.39472_39476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.588+106_588+110del
ENST00000264896.8:c.612+106_612+110del MANE Select	ENSP00000264896.2:n.612+106_612+110del
ENST00000502908.2:n.2219_2223del
ENST00000638295.1:c.138+106_138+110del	ENSP00000492288.1:n.138+106_138+110del
ENST00000638372.1:n.864+106_864+110del
ENST00000638603.1:c.612+106_612+110del	ENSP00000491728.1:n.612+106_612+110del
ENST00000638663.1:c.612+106_612+110del	ENSP00000491407.1:n.612+106_612+110del
ENST00000638680.1:n.2193+106_2193+110del
ENST00000639145.1:c.603+106_603+110del	ENSP00000492831.1:n.603+106_603+110del
ENST00000639300.1:c.612+106_612+110del	ENSP00000492840.1:n.612+106_612+110del
ENST00000639324.1:n.711+106_711+110del
ENST00000639715.1:c.567+106_567+110del
ENST00000639738.1:c.276-13110_276-13106del	ENSP00000491792.1:n.276-13110_276-13106del
ENST00000640076.1:n.193+106_193+110del
ENST00000640341.1:c.*252+106_*252+110del	ENSP00000492714.1:n.*252+106_*252+110del
ENST00000640634.1:c.733+106_733+110del
ENST00000640640.1:c.612+106_612+110del	ENSP00000492246.1:n.612+106_612+110del
ENST00000640916.1:n.646_650del
ENST00000640957.1:c.612+106_612+110del	ENSP00000492004.1:n.612+106_612+110del
ENST00000264896.6:c.612+106_612+110del	ENSP00000264896.2:n.612+106_612+110del
ENST00000452464.6:c.276-3501_276-3497del	ENSP00000399154.2:n.276-3501_276-3497del
NM_001204255.1:c.276-3501_276-3497del	NP_001191184.1:n.276-3501_276-3497del
NM_005506.3:c.612+106_612+110del	NP_005497.1:n.612+106_612+110del
NM_005506.4:c.612+106_612+110del MANE Select	NP_005497.1:n.612+106_612+110del
NM_001204255.2:c.276-3501_276-3497del	NP_001191184.1:n.276-3501_276-3497del