Canonical Allele Identifier: CA162472379
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs567956755
gnomAD v2: 7-87213026-AGTT-A
gnomAD v3: 7-87583710-AGTT-A
gnomAD v4: 7-87583710-AGTT-A
MyVariant Identifiers: chr7:g.87213027_87213029del (hg19) chr7:g.87583711_87583713del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87583711_87583713del , CM000669.2:g.87583711_87583713del GRCh38
NC_000007.13:g.87213027_87213029del , CM000669.1:g.87213027_87213029del GRCh37
NC_000007.12:g.87050963_87050965del NCBI36
NG_011513.1:g.134536_134538del

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.286+1799_286+1801del ENSP00000265724.3:n.286+1799_286+1801del
ENST00000622132.5:c.286+1799_286+1801del MANE Select ENSP00000478255.1:n.286+1799_286+1801del
ENST00000265724.7:c.286+1799_286+1801del ENSP00000265724.3:n.286+1799_286+1801del
ENST00000543898.5:c.286+1799_286+1801del ENSP00000444095.1:n.286+1799_286+1801del
ENST00000622132.4:c.286+1799_286+1801del ENSP00000478255.1:n.286+1799_286+1801del
NM_000927.4:c.286+1799_286+1801del NP_000918.2:n.286+1799_286+1801del
NM_001348944.1:c.286+1799_286+1801del NP_001335873.1:n.286+1799_286+1801del
NM_001348945.1:c.496+1799_496+1801del NP_001335874.1:n.496+1799_496+1801del
NM_001348946.1:c.286+1799_286+1801del NP_001335875.1:n.286+1799_286+1801del
NM_001348946.2:c.286+1799_286+1801del MANE Select NP_001335875.1:n.286+1799_286+1801del
NM_000927.5:c.286+1799_286+1801del NP_000918.2:n.286+1799_286+1801del
NM_001348944.2:c.286+1799_286+1801del NP_001335873.1:n.286+1799_286+1801del
NM_001348945.2:c.496+1799_496+1801del NP_001335874.1:n.496+1799_496+1801del
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