Canonical Allele Identifier: CA2545933593
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87562763_87562766del , CM000669.2:g.87562763_87562766del GRCh38
NC_000007.13:g.87192079_87192082del , CM000669.1:g.87192079_87192082del GRCh37
NC_000007.12:g.87030015_87030018del NCBI36
NG_011513.1:g.155486_155489del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.703-1376_703-1373del ENSP00000265724.3:n.703-1376_703-1373del
ENST00000622132.5:c.703-1376_703-1373del MANE Select ENSP00000478255.1:n.703-1376_703-1373del
ENST00000265724.7:c.703-1376_703-1373del ENSP00000265724.3:n.703-1376_703-1373del
ENST00000543898.5:c.511-1376_511-1373del ENSP00000444095.1:n.511-1376_511-1373del
ENST00000622132.4:c.703-1376_703-1373del ENSP00000478255.1:n.703-1376_703-1373del
NM_000927.4:c.703-1376_703-1373del NP_000918.2:n.703-1376_703-1373del
NM_001348944.1:c.703-1376_703-1373del NP_001335873.1:n.703-1376_703-1373del
NM_001348945.1:c.913-1376_913-1373del NP_001335874.1:n.913-1376_913-1373del
NM_001348946.1:c.703-1376_703-1373del NP_001335875.1:n.703-1376_703-1373del
NM_001348946.2:c.703-1376_703-1373del MANE Select NP_001335875.1:n.703-1376_703-1373del
NM_000927.5:c.703-1376_703-1373del NP_000918.2:n.703-1376_703-1373del
NM_001348944.2:c.703-1376_703-1373del NP_001335873.1:n.703-1376_703-1373del
NM_001348945.2:c.913-1376_913-1373del NP_001335874.1:n.913-1376_913-1373del