Canonical Allele Identifier: CA2683605872
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87531566_87531570del , CM000669.2:g.87531566_87531570del GRCh38
NC_000007.13:g.87160882_87160886del , CM000669.1:g.87160882_87160886del GRCh37
NC_000007.12:g.86998818_86998822del NCBI36
NG_011513.1:g.186679_186683del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2482-73_2482-69del ENSP00000265724.3:n.2482-73_2482-69del
ENST00000622132.5:c.2482-73_2482-69del MANE Select ENSP00000478255.1:n.2482-73_2482-69del
ENST00000265724.7:c.2482-73_2482-69del ENSP00000265724.3:n.2482-73_2482-69del
ENST00000488737.6:n.123+5_123+9del
ENST00000496821.5:n.110-73_110-69del
ENST00000543898.5:c.2290-73_2290-69del ENSP00000444095.1:n.2290-73_2290-69del
ENST00000622132.4:c.2482-73_2482-69del ENSP00000478255.1:n.2482-73_2482-69del
NM_000927.4:c.2482-73_2482-69del NP_000918.2:n.2482-73_2482-69del
NM_001348944.1:c.2482-73_2482-69del NP_001335873.1:n.2482-73_2482-69del
NM_001348945.1:c.2692-73_2692-69del NP_001335874.1:n.2692-73_2692-69del
NM_001348946.1:c.2482-73_2482-69del NP_001335875.1:n.2482-73_2482-69del
NM_001348946.2:c.2482-73_2482-69del MANE Select NP_001335875.1:n.2482-73_2482-69del
NM_000927.5:c.2482-73_2482-69del NP_000918.2:n.2482-73_2482-69del
NM_001348944.2:c.2482-73_2482-69del NP_001335873.1:n.2482-73_2482-69del
NM_001348945.2:c.2692-73_2692-69del NP_001335874.1:n.2692-73_2692-69del