Canonical Allele Identifier: CA575862731

Gene: ABCB1

Linked Data

• dbSNP Id: rs1449658643
• gnomAD v2: 7-87180974-T-TC
• gnomAD v3: 7-87551658-T-TC
• gnomAD v4: 7-87551658-T-TC
• MyVariant Identifiers: chr7:g.87180974_87180975insC (hg19) ; chr7:g.87551658_87551659insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87551658_87551659insC , CM000669.2:g.87551658_87551659insC	GRCh38
NC_000007.13:g.87180974_87180975insC , CM000669.1:g.87180974_87180975insC	GRCh37
NC_000007.12:g.87018910_87018911insC	NCBI36
NG_011513.1:g.166590_166591insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1000-821_1000-820insG	ENSP00000265724.3:n.1000-821_1000-820insG
ENST00000622132.5:c.1000-821_1000-820insG MANE Select	ENSP00000478255.1:n.1000-821_1000-820insG
ENST00000265724.7:c.1000-821_1000-820insG	ENSP00000265724.3:n.1000-821_1000-820insG
ENST00000543898.5:c.808-821_808-820insG	ENSP00000444095.1:n.808-821_808-820insG
ENST00000622132.4:c.1000-821_1000-820insG	ENSP00000478255.1:n.1000-821_1000-820insG
NM_000927.4:c.1000-821_1000-820insG	NP_000918.2:n.1000-821_1000-820insG
NM_001348944.1:c.1000-821_1000-820insG	NP_001335873.1:n.1000-821_1000-820insG
NM_001348945.1:c.1210-821_1210-820insG	NP_001335874.1:n.1210-821_1210-820insG
NM_001348946.1:c.1000-821_1000-820insG	NP_001335875.1:n.1000-821_1000-820insG
NM_001348946.2:c.1000-821_1000-820insG MANE Select	NP_001335875.1:n.1000-821_1000-820insG
NM_000927.5:c.1000-821_1000-820insG	NP_000918.2:n.1000-821_1000-820insG
NM_001348944.2:c.1000-821_1000-820insG	NP_001335873.1:n.1000-821_1000-820insG
NM_001348945.2:c.1210-821_1210-820insG	NP_001335874.1:n.1210-821_1210-820insG