Canonical Allele Identifier: CA2557047070
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87503852del , CM000669.2:g.87503852del GRCh38
NC_000007.13:g.87133168del , CM000669.1:g.87133168del GRCh37
NC_000007.12:g.86971104del NCBI36
NG_011513.1:g.214397del

Transcript Alleles

HGVS Amino-acid change
ENST00000622132.5:c.*391del MANE Select ENSP00000478255.1:n.*391del
ENST00000622132.4:c.*391del ENSP00000478255.1:n.*391del
NM_001348946.2:c.*391del MANE Select NP_001335875.1:n.*391del
NM_000927.5:c.*391del NP_000918.2:n.*391del
NM_001348944.2:c.*391del NP_001335873.1:n.*391del
NM_001348945.2:c.*391del NP_001335874.1:n.*391del