Canonical Allele Identifier: CA915945213
Gene: ABCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 829505
ClinVar RCV Id: RCV001029428
dbSNP Id: rs1584865847

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87545093del , CM000669.2:g.87545093del GRCh38
NC_000007.13:g.87174409del , CM000669.1:g.87174409del GRCh37
NC_000007.12:g.87012345del NCBI36
NG_011513.1:g.173157del

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.1888-93del ENSP00000265724.3:n.1888-93del
ENST00000622132.5:c.1888-93del MANE Select ENSP00000478255.1:n.1888-93del
ENST00000265724.7:c.1888-93del ENSP00000265724.3:n.1888-93del
ENST00000543898.5:c.1696-93del ENSP00000444095.1:n.1696-93del
ENST00000622132.4:c.1888-93del ENSP00000478255.1:n.1888-93del
NM_000927.4:c.1888-93del NP_000918.2:n.1888-93del
NM_001348944.1:c.1888-93del NP_001335873.1:n.1888-93del
NM_001348945.1:c.2098-93del NP_001335874.1:n.2098-93del
NM_001348946.1:c.1888-93del NP_001335875.1:n.1888-93del
NM_001348946.2:c.1888-93del MANE Select NP_001335875.1:n.1888-93del
NM_000927.5:c.1888-93del NP_000918.2:n.1888-93del
NM_001348944.2:c.1888-93del NP_001335873.1:n.1888-93del
NM_001348945.2:c.2098-93del NP_001335874.1:n.2098-93del