Canonical Allele Identifier: CA843378741

Gene: ABCB1

Linked Data

• dbSNP Id: rs1241023862
• gnomAD v3: 7-87530830-CAAGA-C
• gnomAD v4: 7-87530830-CAAGA-C
• MyVariant Identifiers: chr7:g.87160147_87160150del (hg19) ; chr7:g.87530831_87530834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530834_87530837del , CM000669.2:g.87530834_87530837del	GRCh38
NC_000007.13:g.87160150_87160153del , CM000669.1:g.87160150_87160153del	GRCh37
NC_000007.12:g.86998086_86998089del	NCBI36
NG_011513.1:g.187415_187418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+460_2685+463del	ENSP00000265724.3:n.2685+460_2685+463del
ENST00000622132.5:c.2685+460_2685+463del MANE Select	ENSP00000478255.1:n.2685+460_2685+463del
ENST00000265724.7:c.2685+460_2685+463del	ENSP00000265724.3:n.2685+460_2685+463del
ENST00000488737.6:n.327+460_327+463del
ENST00000496821.5:n.313+460_313+463del
ENST00000543898.5:c.2493+460_2493+463del	ENSP00000444095.1:n.2493+460_2493+463del
ENST00000622132.4:c.2685+460_2685+463del	ENSP00000478255.1:n.2685+460_2685+463del
NM_000927.4:c.2685+460_2685+463del	NP_000918.2:n.2685+460_2685+463del
NM_001348944.1:c.2685+460_2685+463del	NP_001335873.1:n.2685+460_2685+463del
NM_001348945.1:c.2895+460_2895+463del	NP_001335874.1:n.2895+460_2895+463del
NM_001348946.1:c.2685+460_2685+463del	NP_001335875.1:n.2685+460_2685+463del
NM_001348946.2:c.2685+460_2685+463del MANE Select	NP_001335875.1:n.2685+460_2685+463del
NM_000927.5:c.2685+460_2685+463del	NP_000918.2:n.2685+460_2685+463del
NM_001348944.2:c.2685+460_2685+463del	NP_001335873.1:n.2685+460_2685+463del
NM_001348945.2:c.2895+460_2895+463del	NP_001335874.1:n.2895+460_2895+463del