Canonical Allele Identifier: CA2568936948

Gene: ABCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87535637_87535638insGAGTTATAACGTTGAAATATAAACCTTAGGAGTCCCTCTTTTACTATTCCAAACAATAGAAAAAGAGGGACTCCT , CM000669.2:g.87535637_87535638insGAGTTATAACGTTGAAATATAAACCTTAGGAGTCCCTCTTTTACTATTCCAAACAATAGAAAAAGAGGGACTCCT	GRCh38
NC_000007.13:g.87164953_87164954insGAGTTATAACGTTGAAATATAAACCTTAGGAGTCCCTCTTTTACTATTCCAAACAATAGAAAAAGAGGGACTCCT , CM000669.1:g.87164953_87164954insGAGTTATAACGTTGAAATATAAACCTTAGGAGTCCCTCTTTTACTATTCCAAACAATAGAAAAAGAGGGACTCCT	GRCh37
NC_000007.12:g.87002889_87002890insGAGTTATAACGTTGAAATATAAACCTTAGGAGTCCCTCTTTTACTATTCCAAACAATAGAAAAAGAGGGACTCCT	NCBI36
NG_011513.1:g.182644_182645insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT	ENSP00000265724.3:n.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTT...
ENST00000622132.5:c.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT MANE Select	ENSP00000478255.1:n.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTT...
ENST00000265724.7:c.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT	ENSP00000265724.3:n.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTT...
ENST00000496821.5:n.109+853_109+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT
ENST00000543898.5:c.2289+853_2289+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT	ENSP00000444095.1:n.2289+853_2289+854insAAAAGAGGGACTCCTAAGGTT...
ENST00000622132.4:c.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT	ENSP00000478255.1:n.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTT...
NM_000927.4:c.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT	NP_000918.2:n.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATT...
NM_001348944.1:c.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT	NP_001335873.1:n.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTAT...
NM_001348945.1:c.2691+853_2691+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT	NP_001335874.1:n.2691+853_2691+854insAAAAGAGGGACTCCTAAGGTTTAT...
NM_001348946.1:c.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT	NP_001335875.1:n.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTAT...
NM_001348946.2:c.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT MANE Select	NP_001335875.1:n.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTAT...
NM_000927.5:c.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT	NP_000918.2:n.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATT...
NM_001348944.2:c.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT	NP_001335873.1:n.2481+853_2481+854insAAAAGAGGGACTCCTAAGGTTTAT...
NM_001348945.2:c.2691+853_2691+854insAAAAGAGGGACTCCTAAGGTTTATATTTCAACGTTATAACTCAGGAGTCCCTCTTTTTCTATTGTTTGGAATAGT	NP_001335874.1:n.2691+853_2691+854insAAAAGAGGGACTCCTAAGGTTTAT...