Canonical Allele Identifier: CA2511461657
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530814_87530833del , CM000669.2:g.87530814_87530833del GRCh38
NC_000007.13:g.87160130_87160149del , CM000669.1:g.87160130_87160149del GRCh37
NC_000007.12:g.86998066_86998085del NCBI36
NG_011513.1:g.187419_187438del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+464_2685+483del ENSP00000265724.3:n.2685+464_2685+483del
ENST00000622132.5:c.2685+464_2685+483del MANE Select ENSP00000478255.1:n.2685+464_2685+483del
ENST00000265724.7:c.2685+464_2685+483del ENSP00000265724.3:n.2685+464_2685+483del
ENST00000488737.6:n.327+464_327+483del
ENST00000496821.5:n.313+464_313+483del
ENST00000543898.5:c.2493+464_2493+483del ENSP00000444095.1:n.2493+464_2493+483del
ENST00000622132.4:c.2685+464_2685+483del ENSP00000478255.1:n.2685+464_2685+483del
NM_000927.4:c.2685+464_2685+483del NP_000918.2:n.2685+464_2685+483del
NM_001348944.1:c.2685+464_2685+483del NP_001335873.1:n.2685+464_2685+483del
NM_001348945.1:c.2895+464_2895+483del NP_001335874.1:n.2895+464_2895+483del
NM_001348946.1:c.2685+464_2685+483del NP_001335875.1:n.2685+464_2685+483del
NM_001348946.2:c.2685+464_2685+483del MANE Select NP_001335875.1:n.2685+464_2685+483del
NM_000927.5:c.2685+464_2685+483del NP_000918.2:n.2685+464_2685+483del
NM_001348944.2:c.2685+464_2685+483del NP_001335873.1:n.2685+464_2685+483del
NM_001348945.2:c.2895+464_2895+483del NP_001335874.1:n.2895+464_2895+483del