Canonical Allele Identifier: CA1469497967

Gene: SCARB2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76189146_76189150delinsACAGT , CM000666.2:g.76189146_76189150delinsACAGT	GRCh38
NC_000004.11:g.77110299_77110303delinsACAGT , CM000666.1:g.77110299_77110303delinsACAGT	GRCh37
NC_000004.10:g.77329323_77329327delinsACAGT	NCBI36
NG_012054.1:g.29733_29737delinsACTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682785.1:n.251+6557_251+6561delinsACTGT
ENST00000264896.8:c.275+6557_275+6561delinsACTGT MANE Select	ENSP00000264896.2:n.275+6557_275+6561delinsACTGT
ENST00000502908.2:n.528+6557_528+6561delinsACTGT
ENST00000509994.2:c.276-4370_276-4366delinsACTGT	ENSP00000420988.1:n.276-4370_276-4366delinsACTGT
ENST00000638295.1:c.-200+6557_-200+6561delinsACTGT	ENSP00000492288.1:n.-200+6557_-200+6561delinsACTGT
ENST00000638372.1:n.527+6557_527+6561delinsACTGT
ENST00000638603.1:c.275+6557_275+6561delinsACTGT	ENSP00000491728.1:n.275+6557_275+6561delinsACTGT
ENST00000638663.1:c.275+6557_275+6561delinsACTGT	ENSP00000491407.1:n.275+6557_275+6561delinsACTGT
ENST00000638680.1:n.608+6557_608+6561delinsACTGT
ENST00000639145.1:c.275+6557_275+6561delinsACTGT	ENSP00000492831.1:n.275+6557_275+6561delinsACTGT
ENST00000639300.1:c.275+6557_275+6561delinsACTGT	ENSP00000492840.1:n.275+6557_275+6561delinsACTGT
ENST00000639324.1:n.374+6557_374+6561delinsACTGT
ENST00000639715.1:c.240+6557_240+6561delinsACTGT
ENST00000639738.1:c.275+6557_275+6561delinsACTGT	ENSP00000491792.1:n.275+6557_275+6561delinsACTGT
ENST00000640341.1:c.275+6557_275+6561delinsACTGT	ENSP00000492714.1:n.275+6557_275+6561delinsACTGT
ENST00000640634.1:c.252+6557_252+6561delinsACTGT
ENST00000640640.1:c.275+6557_275+6561delinsACTGT	ENSP00000492246.1:n.275+6557_275+6561delinsACTGT
ENST00000640916.1:n.203+6557_203+6561delinsACTGT
ENST00000640957.1:c.275+6557_275+6561delinsACTGT	ENSP00000492004.1:n.275+6557_275+6561delinsACTGT
ENST00000264896.6:c.275+6557_275+6561delinsACTGT	ENSP00000264896.2:n.275+6557_275+6561delinsACTGT
ENST00000452464.6:c.275+6557_275+6561delinsACTGT	ENSP00000399154.2:n.275+6557_275+6561delinsACTGT
ENST00000502908.1:n.139+6557_139+6561delinsACTGT
ENST00000509994.1:c.276-4370_276-4366delinsACTGT	ENSP00000420988.1:n.276-4370_276-4366delinsACTGT
NM_001204255.1:c.275+6557_275+6561delinsACTGT	NP_001191184.1:n.275+6557_275+6561delinsACTGT
NM_005506.3:c.275+6557_275+6561delinsACTGT	NP_005497.1:n.275+6557_275+6561delinsACTGT
NM_005506.4:c.275+6557_275+6561delinsACTGT MANE Select	NP_005497.1:n.275+6557_275+6561delinsACTGT
NM_001204255.2:c.275+6557_275+6561delinsACTGT	NP_001191184.1:n.275+6557_275+6561delinsACTGT