Canonical Allele Identifier: CA2671071060

Gene: SCARB2

Linked Data

• gnomAD v4: 4-76179390-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179396_76179397del , CM000666.2:g.76179396_76179397del	GRCh38
NC_000004.11:g.77100549_77100550del , CM000666.1:g.77100549_77100550del	GRCh37
NC_000004.10:g.77319573_77319574del	NCBI36
NG_012054.1:g.39491_39492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.588+125_588+126del
ENST00000264896.8:c.612+125_612+126del MANE Select	ENSP00000264896.2:n.612+125_612+126del
ENST00000502908.2:n.2238_2239del
ENST00000638295.1:c.138+125_138+126del	ENSP00000492288.1:n.138+125_138+126del
ENST00000638372.1:n.864+125_864+126del
ENST00000638603.1:c.612+125_612+126del	ENSP00000491728.1:n.612+125_612+126del
ENST00000638663.1:c.612+125_612+126del	ENSP00000491407.1:n.612+125_612+126del
ENST00000638680.1:n.2193+125_2193+126del
ENST00000639145.1:c.603+125_603+126del	ENSP00000492831.1:n.603+125_603+126del
ENST00000639300.1:c.612+125_612+126del	ENSP00000492840.1:n.612+125_612+126del
ENST00000639324.1:n.711+125_711+126del
ENST00000639715.1:c.567+125_567+126del
ENST00000639738.1:c.276-13091_276-13090del	ENSP00000491792.1:n.276-13091_276-13090del
ENST00000640076.1:n.193+125_193+126del
ENST00000640341.1:c.*252+125_*252+126del	ENSP00000492714.1:n.*252+125_*252+126del
ENST00000640634.1:c.733+125_733+126del
ENST00000640640.1:c.612+125_612+126del	ENSP00000492246.1:n.612+125_612+126del
ENST00000640916.1:n.665_666del
ENST00000640957.1:c.612+125_612+126del	ENSP00000492004.1:n.612+125_612+126del
ENST00000264896.6:c.612+125_612+126del	ENSP00000264896.2:n.612+125_612+126del
ENST00000452464.6:c.276-3482_276-3481del	ENSP00000399154.2:n.276-3482_276-3481del
NM_001204255.1:c.276-3482_276-3481del	NP_001191184.1:n.276-3482_276-3481del
NM_005506.3:c.612+125_612+126del	NP_005497.1:n.612+125_612+126del
NM_005506.4:c.612+125_612+126del MANE Select	NP_005497.1:n.612+125_612+126del
NM_001204255.2:c.276-3482_276-3481del	NP_001191184.1:n.276-3482_276-3481del