Canonical Allele Identifier: CA2516989390
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87536683_87536684insTCGGCACGTTATCGGATTACACTTTGACAGGAGCGCAGACGGACGAATTAGCGAGGGTTCGAGCAGGAACAGGAGCGCAGACGGCGACAGGGGCACAAAC , CM000669.2:g.87536683_87536684insTCGGCACGTTATCGGATTACACTTTGACAGGAGCGCAGACGGACGAATTAGCGAGGGTTCGAGCAGGAACAGGAGCGCAGACGGCGACAGGGGCACAAAC GRCh38
NC_000007.13:g.87165999_87166000insTCGGCACGTTATCGGATTACACTTTGACAGGAGCGCAGACGGACGAATTAGCGAGGGTTCGAGCAGGAACAGGAGCGCAGACGGCGACAGGGGCACAAAC , CM000669.1:g.87165999_87166000insTCGGCACGTTATCGGATTACACTTTGACAGGAGCGCAGACGGACGAATTAGCGAGGGTTCGAGCAGGAACAGGAGCGCAGACGGCGACAGGGGCACAAAC GRCh37
NC_000007.12:g.87003935_87003936insTCGGCACGTTATCGGATTACACTTTGACAGGAGCGCAGACGGACGAATTAGCGAGGGTTCGAGCAGGAACAGGAGCGCAGACGGCGACAGGGGCACAAAC NCBI36
NG_011513.1:g.181565_181566insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA ENSP00000265724.3:n.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTC...
ENST00000622132.5:c.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA MANE Select ENSP00000478255.1:n.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTC...
ENST00000265724.7:c.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA ENSP00000265724.3:n.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTC...
ENST00000496821.5:n.26-143_26-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA
ENST00000543898.5:c.2206-143_2206-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA ENSP00000444095.1:n.2206-143_2206-142insGTTTGTGCCCCTGTCGCCGTC...
ENST00000622132.4:c.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA ENSP00000478255.1:n.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTC...
NM_000927.4:c.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA NP_000918.2:n.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCT...
NM_001348944.1:c.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA NP_001335873.1:n.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGC...
NM_001348945.1:c.2608-143_2608-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA NP_001335874.1:n.2608-143_2608-142insGTTTGTGCCCCTGTCGCCGTCTGC...
NM_001348946.1:c.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA NP_001335875.1:n.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGC...
NM_001348946.2:c.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA MANE Select NP_001335875.1:n.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGC...
NM_000927.5:c.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA NP_000918.2:n.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCT...
NM_001348944.2:c.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA NP_001335873.1:n.2398-143_2398-142insGTTTGTGCCCCTGTCGCCGTCTGC...
NM_001348945.2:c.2608-143_2608-142insGTTTGTGCCCCTGTCGCCGTCTGCGCTCCTGTTCCTGCTCGAACCCTCGCTAATTCGTCCGTCTGCGCTCCTGTCAAAGTGTAATCCGATAACGTGCCGA NP_001335874.1:n.2608-143_2608-142insGTTTGTGCCCCTGTCGCCGTCTGC...