Canonical Allele Identifier: CA645550359
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87536517del , CM000669.2:g.87536517del GRCh38
NC_000007.13:g.87165833del , CM000669.1:g.87165833del GRCh37
NC_000007.12:g.87003769del NCBI36
NG_011513.1:g.181736del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2426del ENSP00000265724.3:p.Asn809ThrfsTer6
ENST00000622132.5:c.2426del MANE Select ENSP00000478255.1:p.Asn809ThrfsTer6
ENST00000265724.7:c.2426del ENSP00000265724.3:p.Asn809ThrfsTer6
ENST00000496821.5:n.54del
ENST00000543898.5:c.2234del ENSP00000444095.1:p.Asn745ThrfsTer6
ENST00000622132.4:c.2426del ENSP00000478255.1:p.Asn809ThrfsTer6
NM_000927.4:c.2426del NP_000918.2:p.Asn809ThrfsTer6
NM_001348944.1:c.2426del NP_001335873.1:p.Asn809ThrfsTer6
NM_001348945.1:c.2636del NP_001335874.1:p.Asn879ThrfsTer6
NM_001348946.1:c.2426del NP_001335875.1:p.Asn809ThrfsTer6
NM_001348946.2:c.2426del MANE Select NP_001335875.1:p.Asn809ThrfsTer6
NM_000927.5:c.2426del NP_000918.2:p.Asn809ThrfsTer6
NM_001348944.2:c.2426del NP_001335873.1:p.Asn809ThrfsTer6
NM_001348945.2:c.2636del NP_001335874.1:p.Asn879ThrfsTer6