Canonical Allele Identifier: CA915945253
Gene: ABCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 829477
ClinVar RCV Id: RCV001029400
dbSNP Id: rs1584871252

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550103del , CM000669.2:g.87550103del GRCh38
NC_000007.13:g.87179419del , CM000669.1:g.87179419del GRCh37
NC_000007.12:g.87017355del NCBI36
NG_011513.1:g.168146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1351-49del ENSP00000265724.3:n.1351-49del
ENST00000622132.5:c.1351-49del MANE Select ENSP00000478255.1:n.1351-49del
ENST00000265724.7:c.1351-49del ENSP00000265724.3:n.1351-49del
ENST00000482527.1:n.56del
ENST00000543898.5:c.1159-49del ENSP00000444095.1:n.1159-49del
ENST00000622132.4:c.1351-49del ENSP00000478255.1:n.1351-49del
NM_000927.4:c.1351-49del NP_000918.2:n.1351-49del
NM_001348944.1:c.1351-49del NP_001335873.1:n.1351-49del
NM_001348945.1:c.1561-49del NP_001335874.1:n.1561-49del
NM_001348946.1:c.1351-49del NP_001335875.1:n.1351-49del
NM_001348946.2:c.1351-49del MANE Select NP_001335875.1:n.1351-49del
NM_000927.5:c.1351-49del NP_000918.2:n.1351-49del
NM_001348944.2:c.1351-49del NP_001335873.1:n.1351-49del
NM_001348945.2:c.1561-49del NP_001335874.1:n.1561-49del