Canonical Allele Identifier: CA99838830

Gene: SCARB2

Linked Data

• dbSNP Id: rs200170843
• gnomAD v2: 4-77100593-CAA-C
• gnomAD v3: 4-76179440-CAA-C
• gnomAD v4: 4-76179440-CAA-C
• MyVariant Identifiers: chr4:g.77100594_77100595del (hg19) ; chr4:g.76179441_76179442del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179442_76179443del , CM000666.2:g.76179442_76179443del	GRCh38
NC_000004.11:g.77100595_77100596del , CM000666.1:g.77100595_77100596del	GRCh37
NC_000004.10:g.77319619_77319620del	NCBI36
NG_012054.1:g.39441_39442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.588+75_588+76del
ENST00000264896.8:c.612+75_612+76del MANE Select	ENSP00000264896.2:n.612+75_612+76del
ENST00000502908.2:n.2188_2189del
ENST00000638295.1:c.138+75_138+76del	ENSP00000492288.1:n.138+75_138+76del
ENST00000638372.1:n.864+75_864+76del
ENST00000638603.1:c.612+75_612+76del	ENSP00000491728.1:n.612+75_612+76del
ENST00000638663.1:c.612+75_612+76del	ENSP00000491407.1:n.612+75_612+76del
ENST00000638680.1:n.2193+75_2193+76del
ENST00000639145.1:c.603+75_603+76del	ENSP00000492831.1:n.603+75_603+76del
ENST00000639300.1:c.612+75_612+76del	ENSP00000492840.1:n.612+75_612+76del
ENST00000639324.1:n.711+75_711+76del
ENST00000639715.1:c.567+75_567+76del
ENST00000639738.1:c.276-13141_276-13140del	ENSP00000491792.1:n.276-13141_276-13140del
ENST00000640076.1:n.193+75_193+76del
ENST00000640341.1:c.*252+75_*252+76del	ENSP00000492714.1:n.*252+75_*252+76del
ENST00000640634.1:c.733+75_733+76del
ENST00000640640.1:c.612+75_612+76del	ENSP00000492246.1:n.612+75_612+76del
ENST00000640916.1:n.615_616del
ENST00000640957.1:c.612+75_612+76del	ENSP00000492004.1:n.612+75_612+76del
ENST00000264896.6:c.612+75_612+76del	ENSP00000264896.2:n.612+75_612+76del
ENST00000452464.6:c.276-3532_276-3531del	ENSP00000399154.2:n.276-3532_276-3531del
NM_001204255.1:c.276-3532_276-3531del	NP_001191184.1:n.276-3532_276-3531del
NM_005506.3:c.612+75_612+76del	NP_005497.1:n.612+75_612+76del
NM_005506.4:c.612+75_612+76del MANE Select	NP_005497.1:n.612+75_612+76del
NM_001204255.2:c.276-3532_276-3531del	NP_001191184.1:n.276-3532_276-3531del