Canonical Allele Identifier: CA1723631450
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1292592370

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530865_87530866del , CM000669.2:g.87530865_87530866del GRCh38
NC_000007.13:g.87160181_87160182del , CM000669.1:g.87160181_87160182del GRCh37
NC_000007.12:g.86998117_86998118del NCBI36
NG_011513.1:g.187384_187385del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+429_2685+430del ENSP00000265724.3:n.2685+429_2685+430del
ENST00000622132.5:c.2685+429_2685+430del MANE Select ENSP00000478255.1:n.2685+429_2685+430del
ENST00000265724.7:c.2685+429_2685+430del ENSP00000265724.3:n.2685+429_2685+430del
ENST00000488737.6:n.327+429_327+430del
ENST00000496821.5:n.313+429_313+430del
ENST00000543898.5:c.2493+429_2493+430del ENSP00000444095.1:n.2493+429_2493+430del
ENST00000622132.4:c.2685+429_2685+430del ENSP00000478255.1:n.2685+429_2685+430del
NM_000927.4:c.2685+429_2685+430del NP_000918.2:n.2685+429_2685+430del
NM_001348944.1:c.2685+429_2685+430del NP_001335873.1:n.2685+429_2685+430del
NM_001348945.1:c.2895+429_2895+430del NP_001335874.1:n.2895+429_2895+430del
NM_001348946.1:c.2685+429_2685+430del NP_001335875.1:n.2685+429_2685+430del
NM_001348946.2:c.2685+429_2685+430del MANE Select NP_001335875.1:n.2685+429_2685+430del
NM_000927.5:c.2685+429_2685+430del NP_000918.2:n.2685+429_2685+430del
NM_001348944.2:c.2685+429_2685+430del NP_001335873.1:n.2685+429_2685+430del
NM_001348945.2:c.2895+429_2895+430del NP_001335874.1:n.2895+429_2895+430del