Canonical Allele Identifier: CA843389697

Gene: ABCB1

Linked Data

• dbSNP Id: rs1210674586
• gnomAD v3: 7-87551188-A-AT
• gnomAD v4: 7-87551188-A-AT
• MyVariant Identifiers: chr7:g.87180504_87180505insT (hg19) ; chr7:g.87551188_87551189insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87551196dup , CM000669.2:g.87551196dup	GRCh38
NC_000007.13:g.87180512dup , CM000669.1:g.87180512dup	GRCh37
NC_000007.12:g.87018448dup	NCBI36
NG_011513.1:g.167060dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1000-351dup	ENSP00000265724.3:n.1000-351dup
ENST00000622132.5:c.1000-351dup MANE Select	ENSP00000478255.1:n.1000-351dup
ENST00000265724.7:c.1000-351dup	ENSP00000265724.3:n.1000-351dup
ENST00000543898.5:c.808-351dup	ENSP00000444095.1:n.808-351dup
ENST00000622132.4:c.1000-351dup	ENSP00000478255.1:n.1000-351dup
NM_000927.4:c.1000-351dup	NP_000918.2:n.1000-351dup
NM_001348944.1:c.1000-351dup	NP_001335873.1:n.1000-351dup
NM_001348945.1:c.1210-351dup	NP_001335874.1:n.1210-351dup
NM_001348946.1:c.1000-351dup	NP_001335875.1:n.1000-351dup
NM_001348946.2:c.1000-351dup MANE Select	NP_001335875.1:n.1000-351dup
NM_000927.5:c.1000-351dup	NP_000918.2:n.1000-351dup
NM_001348944.2:c.1000-351dup	NP_001335873.1:n.1000-351dup
NM_001348945.2:c.1210-351dup	NP_001335874.1:n.1210-351dup