Canonical Allele Identifier: CA1723631123
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530822_87530842delinsCAAGAAAGCAAGAAAGCAAGA , CM000669.2:g.87530822_87530842delinsCAAGAAAGCAAGAAAGCAAGA GRCh38
NC_000007.13:g.87160138_87160158delinsCAAGAAAGCAAGAAAGCAAGA , CM000669.1:g.87160138_87160158delinsCAAGAAAGCAAGAAAGCAAGA GRCh37
NC_000007.12:g.86998074_86998094delinsCAAGAAAGCAAGAAAGCAAGA NCBI36
NG_011513.1:g.187407_187427delinsTCTTGCTTTCTTGCTTTCTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG ENSP00000265724.3:n.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTC...
ENST00000622132.5:c.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG MANE Select ENSP00000478255.1:n.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTC...
ENST00000265724.7:c.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG ENSP00000265724.3:n.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTC...
ENST00000488737.6:n.327+452_327+472delinsTCTTGCTTTCTTGCTTTCTTG
ENST00000496821.5:n.313+452_313+472delinsTCTTGCTTTCTTGCTTTCTTG
ENST00000543898.5:c.2493+452_2493+472delinsTCTTGCTTTCTTGCTTTCTTG ENSP00000444095.1:n.2493+452_2493+472delinsTCTTGCTTTCTTGCTTTC...
ENST00000622132.4:c.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG ENSP00000478255.1:n.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTC...
NM_000927.4:c.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG NP_000918.2:n.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG
NM_001348944.1:c.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG NP_001335873.1:n.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG...
NM_001348945.1:c.2895+452_2895+472delinsTCTTGCTTTCTTGCTTTCTTG NP_001335874.1:n.2895+452_2895+472delinsTCTTGCTTTCTTGCTTTCTTG...
NM_001348946.1:c.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG NP_001335875.1:n.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG...
NM_001348946.2:c.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG MANE Select NP_001335875.1:n.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG...
NM_000927.5:c.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG NP_000918.2:n.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG
NM_001348944.2:c.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG NP_001335873.1:n.2685+452_2685+472delinsTCTTGCTTTCTTGCTTTCTTG...
NM_001348945.2:c.2895+452_2895+472delinsTCTTGCTTTCTTGCTTTCTTG NP_001335874.1:n.2895+452_2895+472delinsTCTTGCTTTCTTGCTTTCTTG...