Canonical Allele Identifier: CA1723630868

Gene: ABCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530785_87530817delinsAAAAGAAAGAAAGCAAGAAAGCAAGAAAGCAAG , CM000669.2:g.87530785_87530817delinsAAAAGAAAGAAAGCAAGAAAGCAAGAAAGCAAG	GRCh38
NC_000007.13:g.87160101_87160133delinsAAAAGAAAGAAAGCAAGAAAGCAAGAAAGCAAG , CM000669.1:g.87160101_87160133delinsAAAAGAAAGAAAGCAAGAAAGCAAGAAAGCAAG	GRCh37
NC_000007.12:g.86998037_86998069delinsAAAAGAAAGAAAGCAAGAAAGCAAGAAAGCAAG	NCBI36
NG_011513.1:g.187432_187464delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT	ENSP00000265724.3:n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCT...
ENST00000622132.5:c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT MANE Select	ENSP00000478255.1:n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCT...
ENST00000265724.7:c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT	ENSP00000265724.3:n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCT...
ENST00000488737.6:n.327+477_327+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT
ENST00000496821.5:n.313+477_313+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT
ENST00000543898.5:c.2493+477_2493+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT	ENSP00000444095.1:n.2493+477_2493+509delinsCTTGCTTTCTTGCTTTCT...
ENST00000622132.4:c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT	ENSP00000478255.1:n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCT...
NM_000927.4:c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT	NP_000918.2:n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTT...
NM_001348944.1:c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT	NP_001335873.1:n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGC...
NM_001348945.1:c.2895+477_2895+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT	NP_001335874.1:n.2895+477_2895+509delinsCTTGCTTTCTTGCTTTCTTGC...
NM_001348946.1:c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT	NP_001335875.1:n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGC...
NM_001348946.2:c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT MANE Select	NP_001335875.1:n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGC...
NM_000927.5:c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT	NP_000918.2:n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTT...
NM_001348944.2:c.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT	NP_001335873.1:n.2685+477_2685+509delinsCTTGCTTTCTTGCTTTCTTGC...
NM_001348945.2:c.2895+477_2895+509delinsCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTT	NP_001335874.1:n.2895+477_2895+509delinsCTTGCTTTCTTGCTTTCTTGC...