Canonical Allele Identifier: CA2390698713
Gene: ABCG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42218918C= , CM000683.2:g.42218918C= GRCh38
NC_000021.8:g.43639028C= , CM000683.1:g.43639028C= GRCh37
NC_000021.7:g.42512097C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000347800.6:c.33+2730C= ENSP00000291524.4:n.33+2730C=
ENST00000398457.6:c.49-6753C= ENSP00000381475.2:n.49-6753C=
ENST00000462050.5:n.227-6753C=
NM_207627.1:c.49-6753C= NP_997510.1:n.49-6753C=
NM_207628.1:c.-24-6753C= NP_997511.1:n.-24-6753C=
NM_207629.1:c.33+2730C= NP_997512.1:n.33+2730C=
XR_937748.1:n.2744+1232G=
XR_937748.3:n.5512+1232G=
NM_207627.2:c.49-6753C= NP_997510.1:n.49-6753C=
NM_207629.2:c.33+2730C= NP_997512.1:n.33+2730C=
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