Canonical Allele Identifier: CA1723630910
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530790_87530822delinsAAAGAAAGCAAGAAAGCAAGAAAGCAAGAAAGC , CM000669.2:g.87530790_87530822delinsAAAGAAAGCAAGAAAGCAAGAAAGCAAGAAAGC GRCh38
NC_000007.13:g.87160106_87160138delinsAAAGAAAGCAAGAAAGCAAGAAAGCAAGAAAGC , CM000669.1:g.87160106_87160138delinsAAAGAAAGCAAGAAAGCAAGAAAGCAAGAAAGC GRCh37
NC_000007.12:g.86998042_86998074delinsAAAGAAAGCAAGAAAGCAAGAAAGCAAGAAAGC NCBI36
NG_011513.1:g.187427_187459delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT ENSP00000265724.3:n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGC...
ENST00000622132.5:c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT MANE Select ENSP00000478255.1:n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGC...
ENST00000265724.7:c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT ENSP00000265724.3:n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGC...
ENST00000488737.6:n.327+472_327+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT
ENST00000496821.5:n.313+472_313+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT
ENST00000543898.5:c.2493+472_2493+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT ENSP00000444095.1:n.2493+472_2493+504delinsGCTTTCTTGCTTTCTTGC...
ENST00000622132.4:c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT ENSP00000478255.1:n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGC...
NM_000927.4:c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT NP_000918.2:n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTT...
NM_001348944.1:c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT NP_001335873.1:n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTT...
NM_001348945.1:c.2895+472_2895+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT NP_001335874.1:n.2895+472_2895+504delinsGCTTTCTTGCTTTCTTGCTTT...
NM_001348946.1:c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT NP_001335875.1:n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTT...
NM_001348946.2:c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT MANE Select NP_001335875.1:n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTT...
NM_000927.5:c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT NP_000918.2:n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTT...
NM_001348944.2:c.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT NP_001335873.1:n.2685+472_2685+504delinsGCTTTCTTGCTTTCTTGCTTT...
NM_001348945.2:c.2895+472_2895+504delinsGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTT NP_001335874.1:n.2895+472_2895+504delinsGCTTTCTTGCTTTCTTGCTTT...