Canonical Allele Identifier: CA1723658106
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87583710_87583729delinsAGTTTACTGTGTGTCTTAGT , CM000669.2:g.87583710_87583729delinsAGTTTACTGTGTGTCTTAGT GRCh38
NC_000007.13:g.87213026_87213045delinsAGTTTACTGTGTGTCTTAGT , CM000669.1:g.87213026_87213045delinsAGTTTACTGTGTGTCTTAGT GRCh37
NC_000007.12:g.87050962_87050981delinsAGTTTACTGTGTGTCTTAGT NCBI36
NG_011513.1:g.134520_134539delinsACTAAGACACACAGTAAACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.286+1783_286+1802delinsACTAAGACACACAGTAAACT ENSP00000265724.3:n.286+1783_286+1802delinsACTAAGACACACAGTAAA...
ENST00000622132.5:c.286+1783_286+1802delinsACTAAGACACACAGTAAACT MANE Select ENSP00000478255.1:n.286+1783_286+1802delinsACTAAGACACACAGTAAA...
ENST00000265724.7:c.286+1783_286+1802delinsACTAAGACACACAGTAAACT ENSP00000265724.3:n.286+1783_286+1802delinsACTAAGACACACAGTAAA...
ENST00000543898.5:c.286+1783_286+1802delinsACTAAGACACACAGTAAACT ENSP00000444095.1:n.286+1783_286+1802delinsACTAAGACACACAGTAAA...
ENST00000622132.4:c.286+1783_286+1802delinsACTAAGACACACAGTAAACT ENSP00000478255.1:n.286+1783_286+1802delinsACTAAGACACACAGTAAA...
NM_000927.4:c.286+1783_286+1802delinsACTAAGACACACAGTAAACT NP_000918.2:n.286+1783_286+1802delinsACTAAGACACACAGTAAACT
NM_001348944.1:c.286+1783_286+1802delinsACTAAGACACACAGTAAACT NP_001335873.1:n.286+1783_286+1802delinsACTAAGACACACAGTAAACT
NM_001348945.1:c.496+1783_496+1802delinsACTAAGACACACAGTAAACT NP_001335874.1:n.496+1783_496+1802delinsACTAAGACACACAGTAAACT
NM_001348946.1:c.286+1783_286+1802delinsACTAAGACACACAGTAAACT NP_001335875.1:n.286+1783_286+1802delinsACTAAGACACACAGTAAACT
NM_001348946.2:c.286+1783_286+1802delinsACTAAGACACACAGTAAACT MANE Select NP_001335875.1:n.286+1783_286+1802delinsACTAAGACACACAGTAAACT
NM_000927.5:c.286+1783_286+1802delinsACTAAGACACACAGTAAACT NP_000918.2:n.286+1783_286+1802delinsACTAAGACACACAGTAAACT
NM_001348944.2:c.286+1783_286+1802delinsACTAAGACACACAGTAAACT NP_001335873.1:n.286+1783_286+1802delinsACTAAGACACACAGTAAACT
NM_001348945.2:c.496+1783_496+1802delinsACTAAGACACACAGTAAACT NP_001335874.1:n.496+1783_496+1802delinsACTAAGACACACAGTAAACT