Canonical Allele Identifier: CA2521280808
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87544718_87544721del , CM000669.2:g.87544718_87544721del GRCh38
NC_000007.13:g.87174034_87174037del , CM000669.1:g.87174034_87174037del GRCh37
NC_000007.12:g.87011970_87011973del NCBI36
NG_011513.1:g.173528_173531del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2064+102_2064+105del ENSP00000265724.3:n.2064+102_2064+105del
ENST00000622132.5:c.2064+102_2064+105del MANE Select ENSP00000478255.1:n.2064+102_2064+105del
ENST00000265724.7:c.2064+102_2064+105del ENSP00000265724.3:n.2064+102_2064+105del
ENST00000543898.5:c.1872+102_1872+105del ENSP00000444095.1:n.1872+102_1872+105del
ENST00000622132.4:c.2064+102_2064+105del ENSP00000478255.1:n.2064+102_2064+105del
NM_000927.4:c.2064+102_2064+105del NP_000918.2:n.2064+102_2064+105del
NM_001348944.1:c.2064+102_2064+105del NP_001335873.1:n.2064+102_2064+105del
NM_001348945.1:c.2274+102_2274+105del NP_001335874.1:n.2274+102_2274+105del
NM_001348946.1:c.2064+102_2064+105del NP_001335875.1:n.2064+102_2064+105del
NM_001348946.2:c.2064+102_2064+105del MANE Select NP_001335875.1:n.2064+102_2064+105del
NM_000927.5:c.2064+102_2064+105del NP_000918.2:n.2064+102_2064+105del
NM_001348944.2:c.2064+102_2064+105del NP_001335873.1:n.2064+102_2064+105del
NM_001348945.2:c.2274+102_2274+105del NP_001335874.1:n.2274+102_2274+105del