Canonical Allele Identifier: CA2683608636
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550492del , CM000669.2:g.87550492del GRCh38
NC_000007.13:g.87179808del , CM000669.1:g.87179808del GRCh37
NC_000007.12:g.87017744del NCBI36
NG_011513.1:g.167758del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1201del ENSP00000265724.3:p.Tyr401ThrfsTer10
ENST00000622132.5:c.1201del MANE Select ENSP00000478255.1:p.Tyr401ThrfsTer10
ENST00000265724.7:c.1201del ENSP00000265724.3:p.Tyr401ThrfsTer10
ENST00000543898.5:c.1009del ENSP00000444095.1:p.Tyr337ThrfsTer10
ENST00000622132.4:c.1201del ENSP00000478255.1:p.Tyr401ThrfsTer10
NM_000927.4:c.1201del NP_000918.2:p.Tyr401ThrfsTer10
NM_001348944.1:c.1201del NP_001335873.1:p.Tyr401ThrfsTer10
NM_001348945.1:c.1411del NP_001335874.1:p.Tyr471ThrfsTer10
NM_001348946.1:c.1201del NP_001335875.1:p.Tyr401ThrfsTer10
NM_001348946.2:c.1201del MANE Select NP_001335875.1:p.Tyr401ThrfsTer10
NM_000927.5:c.1201del NP_000918.2:p.Tyr401ThrfsTer10
NM_001348944.2:c.1201del NP_001335873.1:p.Tyr401ThrfsTer10
NM_001348945.2:c.1411del NP_001335874.1:p.Tyr471ThrfsTer10