Canonical Allele Identifier: CA1469474249

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76179612_76179614delinsCTG , CM000666.2:g.76179612_76179614delinsCTG	GRCh38
NC_000004.11:g.77100765_77100767delinsCTG , CM000666.1:g.77100765_77100767delinsCTG	GRCh37
NC_000004.10:g.77319789_77319791delinsCTG	NCBI36
NG_012054.1:g.39269_39271delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.491_493delinsCAG
ENST00000264896.8:c.515_517delinsCAG MANE Select	ENSP00000264896.2:p.Thr172=
ENST00000502908.2:n.2016_2018delinsCAG
ENST00000638295.1:c.41_43delinsCAG	ENSP00000492288.1:p.Thr14=
ENST00000638372.1:n.767_769delinsCAG
ENST00000638603.1:c.515_517delinsCAG	ENSP00000491728.1:p.Thr172=
ENST00000638663.1:c.515_517delinsCAG	ENSP00000491407.1:p.Thr172=
ENST00000638680.1:n.2096_2098delinsCAG
ENST00000639145.1:c.506_508delinsCAG	ENSP00000492831.1:p.Thr169=
ENST00000639300.1:c.515_517delinsCAG	ENSP00000492840.1:p.Thr172=
ENST00000639324.1:n.614_616delinsCAG
ENST00000639715.1:c.470_472delinsCAG
ENST00000639738.1:c.276-13313_276-13311delinsCAG	ENSP00000491792.1:n.276-13313_276-13311delinsCAG
ENST00000640076.1:n.96_98delinsCAG
ENST00000640341.1:c.*155_*157delinsCAG	ENSP00000492714.1:n.*155_*157delinsCAG
ENST00000640634.1:c.636_638delinsCAG
ENST00000640640.1:c.515_517delinsCAG	ENSP00000492246.1:p.Thr172=
ENST00000640916.1:n.443_445delinsCAG
ENST00000640957.1:c.515_517delinsCAG	ENSP00000492004.1:p.Thr172=
ENST00000264896.6:c.515_517delinsCAG	ENSP00000264896.2:p.Thr172=
ENST00000452464.6:c.276-3704_276-3702delinsCAG	ENSP00000399154.2:n.276-3704_276-3702delinsCAG
NM_001204255.1:c.276-3704_276-3702delinsCAG	NP_001191184.1:n.276-3704_276-3702delinsCAG
NM_005506.3:c.515_517delinsCAG	NP_005497.1:p.Thr172=
NM_005506.4:c.515_517delinsCAG MANE Select	NP_005497.1:p.Thr172=
NM_001204255.2:c.276-3704_276-3702delinsCAG	NP_001191184.1:n.276-3704_276-3702delinsCAG