Canonical Allele Identifier: CA2578930184
Gene: ABCB1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550397del , CM000669.2:g.87550397del GRCh38
NC_000007.13:g.87179713del , CM000669.1:g.87179713del GRCh37
NC_000007.12:g.87017649del NCBI36
NG_011513.1:g.167853del

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.1224+72del ENSP00000265724.3:n.1224+72del
ENST00000622132.5:c.1224+72del MANE Select ENSP00000478255.1:n.1224+72del
ENST00000265724.7:c.1224+72del ENSP00000265724.3:n.1224+72del
ENST00000543898.5:c.1032+72del ENSP00000444095.1:n.1032+72del
ENST00000622132.4:c.1224+72del ENSP00000478255.1:n.1224+72del
NM_000927.4:c.1224+72del NP_000918.2:n.1224+72del
NM_001348944.1:c.1224+72del NP_001335873.1:n.1224+72del
NM_001348945.1:c.1434+72del NP_001335874.1:n.1434+72del
NM_001348946.1:c.1224+72del NP_001335875.1:n.1224+72del
NM_001348946.2:c.1224+72del MANE Select NP_001335875.1:n.1224+72del
NM_000927.5:c.1224+72del NP_000918.2:n.1224+72del
NM_001348944.2:c.1224+72del NP_001335873.1:n.1224+72del
NM_001348945.2:c.1434+72del NP_001335874.1:n.1434+72del
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