Canonical Allele Identifier: CA843378977

Gene: ABCB1

Linked Data

• dbSNP Id: rs1219471032
• gnomAD v3: 7-87530929-A-AGAAGGAAAGAAGGAAG
• gnomAD v4: 7-87530929-A-AGAAGGAAAGAAGGAAG
• MyVariant Identifiers: chr7:g.87160245_87160246insGAAGGAAAGAAGGAAG (hg19) ; chr7:g.87530929_87530930insGAAGGAAAGAAGGAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530952_87530967dup , CM000669.2:g.87530952_87530967dup	GRCh38
NC_000007.13:g.87160268_87160283dup , CM000669.1:g.87160268_87160283dup	GRCh37
NC_000007.12:g.86998204_86998219dup	NCBI36
NG_011513.1:g.187304_187319dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.2685+349_2685+364dup	ENSP00000265724.3:n.2685+349_2685+364dup
ENST00000622132.5:c.2685+349_2685+364dup MANE Select	ENSP00000478255.1:n.2685+349_2685+364dup
ENST00000265724.7:c.2685+349_2685+364dup	ENSP00000265724.3:n.2685+349_2685+364dup
ENST00000488737.6:n.327+349_327+364dup
ENST00000496821.5:n.313+349_313+364dup
ENST00000543898.5:c.2493+349_2493+364dup	ENSP00000444095.1:n.2493+349_2493+364dup
ENST00000622132.4:c.2685+349_2685+364dup	ENSP00000478255.1:n.2685+349_2685+364dup
NM_000927.4:c.2685+349_2685+364dup	NP_000918.2:n.2685+349_2685+364dup
NM_001348944.1:c.2685+349_2685+364dup	NP_001335873.1:n.2685+349_2685+364dup
NM_001348945.1:c.2895+349_2895+364dup	NP_001335874.1:n.2895+349_2895+364dup
NM_001348946.1:c.2685+349_2685+364dup	NP_001335875.1:n.2685+349_2685+364dup
NM_001348946.2:c.2685+349_2685+364dup MANE Select	NP_001335875.1:n.2685+349_2685+364dup
NM_000927.5:c.2685+349_2685+364dup	NP_000918.2:n.2685+349_2685+364dup
NM_001348944.2:c.2685+349_2685+364dup	NP_001335873.1:n.2685+349_2685+364dup
NM_001348945.2:c.2895+349_2895+364dup	NP_001335874.1:n.2895+349_2895+364dup