Canonical Allele Identifier: CA2578930393
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600099del , CM000669.2:g.87600099del GRCh38
NC_000007.13:g.87229415del , CM000669.1:g.87229415del GRCh37
NC_000007.12:g.87067351del NCBI36
NG_011513.1:g.118153del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.68+21del ENSP00000265724.3:n.68+21del
ENST00000622132.5:c.68+21del MANE Select ENSP00000478255.1:n.68+21del
ENST00000265724.7:c.68+21del ENSP00000265724.3:n.68+21del
ENST00000416177.1:c.68+21del ENSP00000399419.1:n.68+21del
ENST00000543898.5:c.68+21del ENSP00000444095.1:n.68+21del
ENST00000622132.4:c.68+21del ENSP00000478255.1:n.68+21del
NM_000927.4:c.68+21del NP_000918.2:n.68+21del
NM_001348944.1:c.68+21del NP_001335873.1:n.68+21del
NM_001348945.1:c.278+21del NP_001335874.1:n.278+21del
NM_001348946.1:c.68+21del NP_001335875.1:n.68+21del
NM_001348946.2:c.68+21del MANE Select NP_001335875.1:n.68+21del
NM_000927.5:c.68+21del NP_000918.2:n.68+21del
NM_001348944.2:c.68+21del NP_001335873.1:n.68+21del
NM_001348945.2:c.278+21del NP_001335874.1:n.278+21del