Canonical Allele Identifier: CA3056330647

Gene: ABCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530877_87530878insAAGAAAGAAAG , CM000669.2:g.87530877_87530878insAAGAAAGAAAG	GRCh38
NC_000007.13:g.87160193_87160194insAAGAAAGAAAG , CM000669.1:g.87160193_87160194insAAGAAAGAAAG	GRCh37
NC_000007.12:g.86998129_86998130insAAGAAAGAAAG	NCBI36
NG_011513.1:g.187371_187372insCTTTCTTTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+416_2685+417insCTTTCTTTCTT	ENSP00000265724.3:n.2685+416_2685+417insCTTTCTTTCTT
ENST00000622132.5:c.2685+416_2685+417insCTTTCTTTCTT MANE Select	ENSP00000478255.1:n.2685+416_2685+417insCTTTCTTTCTT
ENST00000265724.7:c.2685+416_2685+417insCTTTCTTTCTT	ENSP00000265724.3:n.2685+416_2685+417insCTTTCTTTCTT
ENST00000488737.6:n.327+416_327+417insCTTTCTTTCTT
ENST00000496821.5:n.313+416_313+417insCTTTCTTTCTT
ENST00000543898.5:c.2493+416_2493+417insCTTTCTTTCTT	ENSP00000444095.1:n.2493+416_2493+417insCTTTCTTTCTT
ENST00000622132.4:c.2685+416_2685+417insCTTTCTTTCTT	ENSP00000478255.1:n.2685+416_2685+417insCTTTCTTTCTT
NM_000927.4:c.2685+416_2685+417insCTTTCTTTCTT	NP_000918.2:n.2685+416_2685+417insCTTTCTTTCTT
NM_001348944.1:c.2685+416_2685+417insCTTTCTTTCTT	NP_001335873.1:n.2685+416_2685+417insCTTTCTTTCTT
NM_001348945.1:c.2895+416_2895+417insCTTTCTTTCTT	NP_001335874.1:n.2895+416_2895+417insCTTTCTTTCTT
NM_001348946.1:c.2685+416_2685+417insCTTTCTTTCTT	NP_001335875.1:n.2685+416_2685+417insCTTTCTTTCTT
NM_001348946.2:c.2685+416_2685+417insCTTTCTTTCTT MANE Select	NP_001335875.1:n.2685+416_2685+417insCTTTCTTTCTT
NM_000927.5:c.2685+416_2685+417insCTTTCTTTCTT	NP_000918.2:n.2685+416_2685+417insCTTTCTTTCTT
NM_001348944.2:c.2685+416_2685+417insCTTTCTTTCTT	NP_001335873.1:n.2685+416_2685+417insCTTTCTTTCTT
NM_001348945.2:c.2895+416_2895+417insCTTTCTTTCTT	NP_001335874.1:n.2895+416_2895+417insCTTTCTTTCTT