Canonical Allele Identifier: CA1723631695
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530929_87530945delinsAGAAGGAAAGAAGGAAG , CM000669.2:g.87530929_87530945delinsAGAAGGAAAGAAGGAAG GRCh38
NC_000007.13:g.87160245_87160261delinsAGAAGGAAAGAAGGAAG , CM000669.1:g.87160245_87160261delinsAGAAGGAAAGAAGGAAG GRCh37
NC_000007.12:g.86998181_86998197delinsAGAAGGAAAGAAGGAAG NCBI36
NG_011513.1:g.187304_187320delinsCTTCCTTCTTTCCTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT ENSP00000265724.3:n.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT
ENST00000622132.5:c.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT MANE Select ENSP00000478255.1:n.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT
ENST00000265724.7:c.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT ENSP00000265724.3:n.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT
ENST00000488737.6:n.327+349_327+365delinsCTTCCTTCTTTCCTTCT
ENST00000496821.5:n.313+349_313+365delinsCTTCCTTCTTTCCTTCT
ENST00000543898.5:c.2493+349_2493+365delinsCTTCCTTCTTTCCTTCT ENSP00000444095.1:n.2493+349_2493+365delinsCTTCCTTCTTTCCTTCT
ENST00000622132.4:c.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT ENSP00000478255.1:n.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT
NM_000927.4:c.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT NP_000918.2:n.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT
NM_001348944.1:c.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT NP_001335873.1:n.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT
NM_001348945.1:c.2895+349_2895+365delinsCTTCCTTCTTTCCTTCT NP_001335874.1:n.2895+349_2895+365delinsCTTCCTTCTTTCCTTCT
NM_001348946.1:c.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT NP_001335875.1:n.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT
NM_001348946.2:c.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT MANE Select NP_001335875.1:n.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT
NM_000927.5:c.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT NP_000918.2:n.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT
NM_001348944.2:c.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT NP_001335873.1:n.2685+349_2685+365delinsCTTCCTTCTTTCCTTCT
NM_001348945.2:c.2895+349_2895+365delinsCTTCCTTCTTTCCTTCT NP_001335874.1:n.2895+349_2895+365delinsCTTCCTTCTTTCCTTCT