Canonical Allele Identifier: CA1723631121
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530822_87530826delinsCAAGA , CM000669.2:g.87530822_87530826delinsCAAGA GRCh38
NC_000007.13:g.87160138_87160142delinsCAAGA , CM000669.1:g.87160138_87160142delinsCAAGA GRCh37
NC_000007.12:g.86998074_86998078delinsCAAGA NCBI36
NG_011513.1:g.187423_187427delinsTCTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+468_2685+472delinsTCTTG ENSP00000265724.3:n.2685+468_2685+472delinsTCTTG
ENST00000622132.5:c.2685+468_2685+472delinsTCTTG MANE Select ENSP00000478255.1:n.2685+468_2685+472delinsTCTTG
ENST00000265724.7:c.2685+468_2685+472delinsTCTTG ENSP00000265724.3:n.2685+468_2685+472delinsTCTTG
ENST00000488737.6:n.327+468_327+472delinsTCTTG
ENST00000496821.5:n.313+468_313+472delinsTCTTG
ENST00000543898.5:c.2493+468_2493+472delinsTCTTG ENSP00000444095.1:n.2493+468_2493+472delinsTCTTG
ENST00000622132.4:c.2685+468_2685+472delinsTCTTG ENSP00000478255.1:n.2685+468_2685+472delinsTCTTG
NM_000927.4:c.2685+468_2685+472delinsTCTTG NP_000918.2:n.2685+468_2685+472delinsTCTTG
NM_001348944.1:c.2685+468_2685+472delinsTCTTG NP_001335873.1:n.2685+468_2685+472delinsTCTTG
NM_001348945.1:c.2895+468_2895+472delinsTCTTG NP_001335874.1:n.2895+468_2895+472delinsTCTTG
NM_001348946.1:c.2685+468_2685+472delinsTCTTG NP_001335875.1:n.2685+468_2685+472delinsTCTTG
NM_001348946.2:c.2685+468_2685+472delinsTCTTG MANE Select NP_001335875.1:n.2685+468_2685+472delinsTCTTG
NM_000927.5:c.2685+468_2685+472delinsTCTTG NP_000918.2:n.2685+468_2685+472delinsTCTTG
NM_001348944.2:c.2685+468_2685+472delinsTCTTG NP_001335873.1:n.2685+468_2685+472delinsTCTTG
NM_001348945.2:c.2895+468_2895+472delinsTCTTG NP_001335874.1:n.2895+468_2895+472delinsTCTTG