Canonical Allele Identifier: CA1104126230

Gene: ABCB1

Linked Data

• dbSNP Id: rs1816024345
• gnomAD v3: 7-87530882-GAA-G
• gnomAD v4: 7-87530882-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530886_87530887del , CM000669.2:g.87530886_87530887del	GRCh38
NC_000007.13:g.87160202_87160203del , CM000669.1:g.87160202_87160203del	GRCh37
NC_000007.12:g.86998138_86998139del	NCBI36
NG_011513.1:g.187365_187366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+410_2685+411del	ENSP00000265724.3:n.2685+410_2685+411del
ENST00000622132.5:c.2685+410_2685+411del MANE Select	ENSP00000478255.1:n.2685+410_2685+411del
ENST00000265724.7:c.2685+410_2685+411del	ENSP00000265724.3:n.2685+410_2685+411del
ENST00000488737.6:n.327+410_327+411del
ENST00000496821.5:n.313+410_313+411del
ENST00000543898.5:c.2493+410_2493+411del	ENSP00000444095.1:n.2493+410_2493+411del
ENST00000622132.4:c.2685+410_2685+411del	ENSP00000478255.1:n.2685+410_2685+411del
NM_000927.4:c.2685+410_2685+411del	NP_000918.2:n.2685+410_2685+411del
NM_001348944.1:c.2685+410_2685+411del	NP_001335873.1:n.2685+410_2685+411del
NM_001348945.1:c.2895+410_2895+411del	NP_001335874.1:n.2895+410_2895+411del
NM_001348946.1:c.2685+410_2685+411del	NP_001335875.1:n.2685+410_2685+411del
NM_001348946.2:c.2685+410_2685+411del MANE Select	NP_001335875.1:n.2685+410_2685+411del
NM_000927.5:c.2685+410_2685+411del	NP_000918.2:n.2685+410_2685+411del
NM_001348944.2:c.2685+410_2685+411del	NP_001335873.1:n.2685+410_2685+411del
NM_001348945.2:c.2895+410_2895+411del	NP_001335874.1:n.2895+410_2895+411del