Canonical Allele Identifier: CA918067097
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530853_87530854insCAAGAAAGAAAG , CM000669.2:g.87530853_87530854insCAAGAAAGAAAG GRCh38
NC_000007.13:g.87160169_87160170insCAAGAAAGAAAG , CM000669.1:g.87160169_87160170insCAAGAAAGAAAG GRCh37
NC_000007.12:g.86998105_86998106insCAAGAAAGAAAG NCBI36
NG_011513.1:g.187406_187407insGCTTTCTTTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+451_2685+452insGCTTTCTTTCTT ENSP00000265724.3:n.2685+451_2685+452insGCTTTCTTTCTT
ENST00000622132.5:c.2685+451_2685+452insGCTTTCTTTCTT MANE Select ENSP00000478255.1:n.2685+451_2685+452insGCTTTCTTTCTT
ENST00000265724.7:c.2685+451_2685+452insGCTTTCTTTCTT ENSP00000265724.3:n.2685+451_2685+452insGCTTTCTTTCTT
ENST00000488737.6:n.327+451_327+452insGCTTTCTTTCTT
ENST00000496821.5:n.313+451_313+452insGCTTTCTTTCTT
ENST00000543898.5:c.2493+451_2493+452insGCTTTCTTTCTT ENSP00000444095.1:n.2493+451_2493+452insGCTTTCTTTCTT
ENST00000622132.4:c.2685+451_2685+452insGCTTTCTTTCTT ENSP00000478255.1:n.2685+451_2685+452insGCTTTCTTTCTT
NM_000927.4:c.2685+451_2685+452insGCTTTCTTTCTT NP_000918.2:n.2685+451_2685+452insGCTTTCTTTCTT
NM_001348944.1:c.2685+451_2685+452insGCTTTCTTTCTT NP_001335873.1:n.2685+451_2685+452insGCTTTCTTTCTT
NM_001348945.1:c.2895+451_2895+452insGCTTTCTTTCTT NP_001335874.1:n.2895+451_2895+452insGCTTTCTTTCTT
NM_001348946.1:c.2685+451_2685+452insGCTTTCTTTCTT NP_001335875.1:n.2685+451_2685+452insGCTTTCTTTCTT
NM_001348946.2:c.2685+451_2685+452insGCTTTCTTTCTT MANE Select NP_001335875.1:n.2685+451_2685+452insGCTTTCTTTCTT
NM_000927.5:c.2685+451_2685+452insGCTTTCTTTCTT NP_000918.2:n.2685+451_2685+452insGCTTTCTTTCTT
NM_001348944.2:c.2685+451_2685+452insGCTTTCTTTCTT NP_001335873.1:n.2685+451_2685+452insGCTTTCTTTCTT
NM_001348945.2:c.2895+451_2895+452insGCTTTCTTTCTT NP_001335874.1:n.2895+451_2895+452insGCTTTCTTTCTT