Canonical Allele Identifier: CA1723631097
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530818_87530838delinsAAAGCAAGAAAGCAAGAAAGC , CM000669.2:g.87530818_87530838delinsAAAGCAAGAAAGCAAGAAAGC GRCh38
NC_000007.13:g.87160134_87160154delinsAAAGCAAGAAAGCAAGAAAGC , CM000669.1:g.87160134_87160154delinsAAAGCAAGAAAGCAAGAAAGC GRCh37
NC_000007.12:g.86998070_86998090delinsAAAGCAAGAAAGCAAGAAAGC NCBI36
NG_011513.1:g.187411_187431delinsGCTTTCTTGCTTTCTTGCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT ENSP00000265724.3:n.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGC...
ENST00000622132.5:c.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT MANE Select ENSP00000478255.1:n.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGC...
ENST00000265724.7:c.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT ENSP00000265724.3:n.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGC...
ENST00000488737.6:n.327+456_327+476delinsGCTTTCTTGCTTTCTTGCTTT
ENST00000496821.5:n.313+456_313+476delinsGCTTTCTTGCTTTCTTGCTTT
ENST00000543898.5:c.2493+456_2493+476delinsGCTTTCTTGCTTTCTTGCTTT ENSP00000444095.1:n.2493+456_2493+476delinsGCTTTCTTGCTTTCTTGC...
ENST00000622132.4:c.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT ENSP00000478255.1:n.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGC...
NM_000927.4:c.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT NP_000918.2:n.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT
NM_001348944.1:c.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT NP_001335873.1:n.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT...
NM_001348945.1:c.2895+456_2895+476delinsGCTTTCTTGCTTTCTTGCTTT NP_001335874.1:n.2895+456_2895+476delinsGCTTTCTTGCTTTCTTGCTTT...
NM_001348946.1:c.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT NP_001335875.1:n.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT...
NM_001348946.2:c.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT MANE Select NP_001335875.1:n.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT...
NM_000927.5:c.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT NP_000918.2:n.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT
NM_001348944.2:c.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT NP_001335873.1:n.2685+456_2685+476delinsGCTTTCTTGCTTTCTTGCTTT...
NM_001348945.2:c.2895+456_2895+476delinsGCTTTCTTGCTTTCTTGCTTT NP_001335874.1:n.2895+456_2895+476delinsGCTTTCTTGCTTTCTTGCTTT...