Canonical Allele Identifier: CA2578930387
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600037del , CM000669.2:g.87600037del GRCh38
NC_000007.13:g.87229353del , CM000669.1:g.87229353del GRCh37
NC_000007.12:g.87067289del NCBI36
NG_011513.1:g.118214del

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.68+82del ENSP00000265724.3:n.68+82del
ENST00000622132.5:c.68+82del MANE Select ENSP00000478255.1:n.68+82del
ENST00000265724.7:c.68+82del ENSP00000265724.3:n.68+82del
ENST00000416177.1:c.68+82del ENSP00000399419.1:n.68+82del
ENST00000543898.5:c.68+82del ENSP00000444095.1:n.68+82del
ENST00000622132.4:c.68+82del ENSP00000478255.1:n.68+82del
NM_000927.4:c.68+82del NP_000918.2:n.68+82del
NM_001348944.1:c.68+82del NP_001335873.1:n.68+82del
NM_001348945.1:c.278+82del NP_001335874.1:n.278+82del
NM_001348946.1:c.68+82del NP_001335875.1:n.68+82del
NM_001348946.2:c.68+82del MANE Select NP_001335875.1:n.68+82del
NM_000927.5:c.68+82del NP_000918.2:n.68+82del
NM_001348944.2:c.68+82del NP_001335873.1:n.68+82del
NM_001348945.2:c.278+82del NP_001335874.1:n.278+82del