Canonical Allele Identifier: CA1104126036

Gene: ABCB1

Linked Data

• dbSNP Id: rs1412073870
• gnomAD v3: 7-87530838-C-CAAGAAAGCAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA
• gnomAD v4: 7-87530838-C-CAAGAAAGCAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530845_87530846insCAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG , CM000669.2:g.87530845_87530846insCAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRCh38
NC_000007.13:g.87160161_87160162insCAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG , CM000669.1:g.87160161_87160162insCAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRCh37
NC_000007.12:g.86998097_86998098insCAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	NCBI36
NG_011513.1:g.187410_187411insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT	ENSP00000265724.3:n.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTT...
ENST00000622132.5:c.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT MANE Select	ENSP00000478255.1:n.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTT...
ENST00000265724.7:c.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT	ENSP00000265724.3:n.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTT...
ENST00000488737.6:n.327+455_327+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT
ENST00000496821.5:n.313+455_313+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT
ENST00000543898.5:c.2493+455_2493+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT	ENSP00000444095.1:n.2493+455_2493+456insTCTTTCTTTCTTTCTTTCTTT...
ENST00000622132.4:c.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT	ENSP00000478255.1:n.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTT...
NM_000927.4:c.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT	NP_000918.2:n.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCT...
NM_001348944.1:c.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT	NP_001335873.1:n.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTT...
NM_001348945.1:c.2895+455_2895+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT	NP_001335874.1:n.2895+455_2895+456insTCTTTCTTTCTTTCTTTCTTTCTT...
NM_001348946.1:c.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT	NP_001335875.1:n.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTT...
NM_001348946.2:c.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT MANE Select	NP_001335875.1:n.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTT...
NM_000927.5:c.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT	NP_000918.2:n.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCT...
NM_001348944.2:c.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT	NP_001335873.1:n.2685+455_2685+456insTCTTTCTTTCTTTCTTTCTTTCTT...
NM_001348945.2:c.2895+455_2895+456insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT	NP_001335874.1:n.2895+455_2895+456insTCTTTCTTTCTTTCTTTCTTTCTT...