Canonical Allele Identifier: CA1723631170
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530830_87530850delinsCAAGAAAGCAAGAAAGAAAGA , CM000669.2:g.87530830_87530850delinsCAAGAAAGCAAGAAAGAAAGA GRCh38
NC_000007.13:g.87160146_87160166delinsCAAGAAAGCAAGAAAGAAAGA , CM000669.1:g.87160146_87160166delinsCAAGAAAGCAAGAAAGAAAGA GRCh37
NC_000007.12:g.86998082_86998102delinsCAAGAAAGCAAGAAAGAAAGA NCBI36
NG_011513.1:g.187399_187419delinsTCTTTCTTTCTTGCTTTCTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG ENSP00000265724.3:n.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTC...
ENST00000622132.5:c.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG MANE Select ENSP00000478255.1:n.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTC...
ENST00000265724.7:c.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG ENSP00000265724.3:n.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTC...
ENST00000488737.6:n.327+444_327+464delinsTCTTTCTTTCTTGCTTTCTTG
ENST00000496821.5:n.313+444_313+464delinsTCTTTCTTTCTTGCTTTCTTG
ENST00000543898.5:c.2493+444_2493+464delinsTCTTTCTTTCTTGCTTTCTTG ENSP00000444095.1:n.2493+444_2493+464delinsTCTTTCTTTCTTGCTTTC...
ENST00000622132.4:c.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG ENSP00000478255.1:n.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTC...
NM_000927.4:c.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG NP_000918.2:n.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG
NM_001348944.1:c.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG NP_001335873.1:n.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG...
NM_001348945.1:c.2895+444_2895+464delinsTCTTTCTTTCTTGCTTTCTTG NP_001335874.1:n.2895+444_2895+464delinsTCTTTCTTTCTTGCTTTCTTG...
NM_001348946.1:c.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG NP_001335875.1:n.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG...
NM_001348946.2:c.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG MANE Select NP_001335875.1:n.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG...
NM_000927.5:c.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG NP_000918.2:n.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG
NM_001348944.2:c.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG NP_001335873.1:n.2685+444_2685+464delinsTCTTTCTTTCTTGCTTTCTTG...
NM_001348945.2:c.2895+444_2895+464delinsTCTTTCTTTCTTGCTTTCTTG NP_001335874.1:n.2895+444_2895+464delinsTCTTTCTTTCTTGCTTTCTTG...