Canonical Allele Identifier: CA162470423

Gene: ABCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87566217_87566218delinsA , CM000669.2:g.87566217_87566218delinsA	GRCh38
NC_000007.13:g.87195533_87195534delinsA , CM000669.1:g.87195533_87195534delinsA	GRCh37
NC_000007.12:g.87033469_87033470delinsA	NCBI36
NG_011513.1:g.152031_152032delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.554_555delinsT	ENSP00000265724.3:p.Gly185ValfsTer21
ENST00000622132.5:c.554_555delinsT MANE Select	ENSP00000478255.1:p.Gly185ValfsTer21
ENST00000265724.7:c.554_555delinsT	ENSP00000265724.3:p.Gly185ValfsTer21
ENST00000543898.5:c.362_363delinsT	ENSP00000444095.1:p.Gly121ValfsTer21
ENST00000622132.4:c.554_555delinsT	ENSP00000478255.1:p.Gly185ValfsTer21
NM_000927.4:c.554_555delinsT	NP_000918.2:p.Gly185ValfsTer21
NM_001348944.1:c.554_555delinsT	NP_001335873.1:p.Gly185ValfsTer21
NM_001348945.1:c.764_765delinsT	NP_001335874.1:p.Gly255ValfsTer21
NM_001348946.1:c.554_555delinsT	NP_001335875.1:p.Gly185ValfsTer21
NM_001348946.2:c.554_555delinsT MANE Select	NP_001335875.1:p.Gly185ValfsTer21
NM_000927.5:c.554_555delinsT	NP_000918.2:p.Gly185ValfsTer21
NM_001348944.2:c.554_555delinsT	NP_001335873.1:p.Gly185ValfsTer21
NM_001348945.2:c.764_765delinsT	NP_001335874.1:p.Gly255ValfsTer21