Canonical Allele Identifier: CA575861945
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530845_87530846insCAAGCAAGAAAG , CM000669.2:g.87530845_87530846insCAAGCAAGAAAG GRCh38
NC_000007.13:g.87160161_87160162insCAAGCAAGAAAG , CM000669.1:g.87160161_87160162insCAAGCAAGAAAG GRCh37
NC_000007.12:g.86998097_86998098insCAAGCAAGAAAG NCBI36
NG_011513.1:g.187414_187415insGCTTTCTTGCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+459_2685+460insGCTTTCTTGCTT ENSP00000265724.3:n.2685+459_2685+460insGCTTTCTTGCTT
ENST00000622132.5:c.2685+459_2685+460insGCTTTCTTGCTT MANE Select ENSP00000478255.1:n.2685+459_2685+460insGCTTTCTTGCTT
ENST00000265724.7:c.2685+459_2685+460insGCTTTCTTGCTT ENSP00000265724.3:n.2685+459_2685+460insGCTTTCTTGCTT
ENST00000488737.6:n.327+459_327+460insGCTTTCTTGCTT
ENST00000496821.5:n.313+459_313+460insGCTTTCTTGCTT
ENST00000543898.5:c.2493+459_2493+460insGCTTTCTTGCTT ENSP00000444095.1:n.2493+459_2493+460insGCTTTCTTGCTT
ENST00000622132.4:c.2685+459_2685+460insGCTTTCTTGCTT ENSP00000478255.1:n.2685+459_2685+460insGCTTTCTTGCTT
NM_000927.4:c.2685+459_2685+460insGCTTTCTTGCTT NP_000918.2:n.2685+459_2685+460insGCTTTCTTGCTT
NM_001348944.1:c.2685+459_2685+460insGCTTTCTTGCTT NP_001335873.1:n.2685+459_2685+460insGCTTTCTTGCTT
NM_001348945.1:c.2895+459_2895+460insGCTTTCTTGCTT NP_001335874.1:n.2895+459_2895+460insGCTTTCTTGCTT
NM_001348946.1:c.2685+459_2685+460insGCTTTCTTGCTT NP_001335875.1:n.2685+459_2685+460insGCTTTCTTGCTT
NM_001348946.2:c.2685+459_2685+460insGCTTTCTTGCTT MANE Select NP_001335875.1:n.2685+459_2685+460insGCTTTCTTGCTT
NM_000927.5:c.2685+459_2685+460insGCTTTCTTGCTT NP_000918.2:n.2685+459_2685+460insGCTTTCTTGCTT
NM_001348944.2:c.2685+459_2685+460insGCTTTCTTGCTT NP_001335873.1:n.2685+459_2685+460insGCTTTCTTGCTT
NM_001348945.2:c.2895+459_2895+460insGCTTTCTTGCTT NP_001335874.1:n.2895+459_2895+460insGCTTTCTTGCTT