Canonical Allele Identifier: CA1469498012
Gene: SCARB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76189230_76189231delinsAT , CM000666.2:g.76189230_76189231delinsAT GRCh38
NC_000004.11:g.77110383_77110384delinsAT , CM000666.1:g.77110383_77110384delinsAT GRCh37
NC_000004.10:g.77329407_77329408delinsAT NCBI36
NG_012054.1:g.29652_29653delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682785.1:n.251+6476_251+6477delinsAT
ENST00000264896.8:c.275+6476_275+6477delinsAT MANE Select ENSP00000264896.2:n.275+6476_275+6477delinsAT
ENST00000502908.2:n.528+6476_528+6477delinsAT
ENST00000509994.2:c.276-4451_276-4450delinsAT ENSP00000420988.1:n.276-4451_276-4450delinsAT
ENST00000638295.1:c.-200+6476_-200+6477delinsAT ENSP00000492288.1:n.-200+6476_-200+6477delinsAT
ENST00000638372.1:n.527+6476_527+6477delinsAT
ENST00000638603.1:c.275+6476_275+6477delinsAT ENSP00000491728.1:n.275+6476_275+6477delinsAT
ENST00000638663.1:c.275+6476_275+6477delinsAT ENSP00000491407.1:n.275+6476_275+6477delinsAT
ENST00000638680.1:n.608+6476_608+6477delinsAT
ENST00000639145.1:c.275+6476_275+6477delinsAT ENSP00000492831.1:n.275+6476_275+6477delinsAT
ENST00000639300.1:c.275+6476_275+6477delinsAT ENSP00000492840.1:n.275+6476_275+6477delinsAT
ENST00000639324.1:n.374+6476_374+6477delinsAT
ENST00000639715.1:c.240+6476_240+6477delinsAT
ENST00000639738.1:c.275+6476_275+6477delinsAT ENSP00000491792.1:n.275+6476_275+6477delinsAT
ENST00000640341.1:c.275+6476_275+6477delinsAT ENSP00000492714.1:n.275+6476_275+6477delinsAT
ENST00000640634.1:c.252+6476_252+6477delinsAT
ENST00000640640.1:c.275+6476_275+6477delinsAT ENSP00000492246.1:n.275+6476_275+6477delinsAT
ENST00000640916.1:n.203+6476_203+6477delinsAT
ENST00000640957.1:c.275+6476_275+6477delinsAT ENSP00000492004.1:n.275+6476_275+6477delinsAT
ENST00000264896.6:c.275+6476_275+6477delinsAT ENSP00000264896.2:n.275+6476_275+6477delinsAT
ENST00000452464.6:c.275+6476_275+6477delinsAT ENSP00000399154.2:n.275+6476_275+6477delinsAT
ENST00000502908.1:n.139+6476_139+6477delinsAT
ENST00000509994.1:c.276-4451_276-4450delinsAT ENSP00000420988.1:n.276-4451_276-4450delinsAT
NM_001204255.1:c.275+6476_275+6477delinsAT NP_001191184.1:n.275+6476_275+6477delinsAT
NM_005506.3:c.275+6476_275+6477delinsAT NP_005497.1:n.275+6476_275+6477delinsAT
NM_005506.4:c.275+6476_275+6477delinsAT MANE Select NP_005497.1:n.275+6476_275+6477delinsAT
NM_001204255.2:c.275+6476_275+6477delinsAT NP_001191184.1:n.275+6476_275+6477delinsAT