Canonical Allele Identifier: CA1723630859
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530781_87530798delinsAAAGAAAAGAAAGAAAGC , CM000669.2:g.87530781_87530798delinsAAAGAAAAGAAAGAAAGC GRCh38
NC_000007.13:g.87160097_87160114delinsAAAGAAAAGAAAGAAAGC , CM000669.1:g.87160097_87160114delinsAAAGAAAAGAAAGAAAGC GRCh37
NC_000007.12:g.86998033_86998050delinsAAAGAAAAGAAAGAAAGC NCBI36
NG_011513.1:g.187451_187468delinsGCTTTCTTTCTTTTCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT ENSP00000265724.3:n.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT...
ENST00000622132.5:c.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT MANE Select ENSP00000478255.1:n.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT...
ENST00000265724.7:c.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT ENSP00000265724.3:n.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT...
ENST00000488737.6:n.327+496_327+513delinsGCTTTCTTTCTTTTCTTT
ENST00000496821.5:n.313+496_313+513delinsGCTTTCTTTCTTTTCTTT
ENST00000543898.5:c.2493+496_2493+513delinsGCTTTCTTTCTTTTCTTT ENSP00000444095.1:n.2493+496_2493+513delinsGCTTTCTTTCTTTTCTTT...
ENST00000622132.4:c.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT ENSP00000478255.1:n.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT...
NM_000927.4:c.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT NP_000918.2:n.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT
NM_001348944.1:c.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT NP_001335873.1:n.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT
NM_001348945.1:c.2895+496_2895+513delinsGCTTTCTTTCTTTTCTTT NP_001335874.1:n.2895+496_2895+513delinsGCTTTCTTTCTTTTCTTT
NM_001348946.1:c.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT NP_001335875.1:n.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT
NM_001348946.2:c.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT MANE Select NP_001335875.1:n.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT
NM_000927.5:c.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT NP_000918.2:n.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT
NM_001348944.2:c.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT NP_001335873.1:n.2685+496_2685+513delinsGCTTTCTTTCTTTTCTTT
NM_001348945.2:c.2895+496_2895+513delinsGCTTTCTTTCTTTTCTTT NP_001335874.1:n.2895+496_2895+513delinsGCTTTCTTTCTTTTCTTT