Canonical Allele Identifier: CA2578930174

Gene: ABCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87549998del , CM000669.2:g.87549998del	GRCh38
NC_000007.13:g.87179314del , CM000669.1:g.87179314del	GRCh37
NC_000007.12:g.87017250del	NCBI36
NG_011513.1:g.168251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1407del	ENSP00000265724.3:p.Ile470LeufsTer4
ENST00000622132.5:c.1407del MANE Select	ENSP00000478255.1:p.Ile470LeufsTer4
ENST00000265724.7:c.1407del	ENSP00000265724.3:p.Ile470LeufsTer4
ENST00000482527.1:n.161del
ENST00000543898.5:c.1215del	ENSP00000444095.1:p.Ile406LeufsTer4
ENST00000622132.4:c.1407del	ENSP00000478255.1:p.Ile470LeufsTer4
NM_000927.4:c.1407del	NP_000918.2:p.Ile470LeufsTer4
NM_001348944.1:c.1407del	NP_001335873.1:p.Ile470LeufsTer4
NM_001348945.1:c.1617del	NP_001335874.1:p.Ile540LeufsTer4
NM_001348946.1:c.1407del	NP_001335875.1:p.Ile470LeufsTer4
NM_001348946.2:c.1407del MANE Select	NP_001335875.1:p.Ile470LeufsTer4
NM_000927.5:c.1407del	NP_000918.2:p.Ile470LeufsTer4
NM_001348944.2:c.1407del	NP_001335873.1:p.Ile470LeufsTer4
NM_001348945.2:c.1617del	NP_001335874.1:p.Ile540LeufsTer4