Canonical Allele Identifier: CA2519306603
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87535591_87535592del , CM000669.2:g.87535591_87535592del GRCh38
NC_000007.13:g.87164907_87164908del , CM000669.1:g.87164907_87164908del GRCh37
NC_000007.12:g.87002843_87002844del NCBI36
NG_011513.1:g.182657_182658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2481+866_2481+867del ENSP00000265724.3:n.2481+866_2481+867del
ENST00000622132.5:c.2481+866_2481+867del MANE Select ENSP00000478255.1:n.2481+866_2481+867del
ENST00000265724.7:c.2481+866_2481+867del ENSP00000265724.3:n.2481+866_2481+867del
ENST00000496821.5:n.109+866_109+867del
ENST00000543898.5:c.2289+866_2289+867del ENSP00000444095.1:n.2289+866_2289+867del
ENST00000622132.4:c.2481+866_2481+867del ENSP00000478255.1:n.2481+866_2481+867del
NM_000927.4:c.2481+866_2481+867del NP_000918.2:n.2481+866_2481+867del
NM_001348944.1:c.2481+866_2481+867del NP_001335873.1:n.2481+866_2481+867del
NM_001348945.1:c.2691+866_2691+867del NP_001335874.1:n.2691+866_2691+867del
NM_001348946.1:c.2481+866_2481+867del NP_001335875.1:n.2481+866_2481+867del
NM_001348946.2:c.2481+866_2481+867del MANE Select NP_001335875.1:n.2481+866_2481+867del
NM_000927.5:c.2481+866_2481+867del NP_000918.2:n.2481+866_2481+867del
NM_001348944.2:c.2481+866_2481+867del NP_001335873.1:n.2481+866_2481+867del
NM_001348945.2:c.2691+866_2691+867del NP_001335874.1:n.2691+866_2691+867del