Canonical Allele Identifier: CA1104126085

Gene: ABCB1

Linked Data

• dbSNP Id: rs1816012470
• gnomAD v3: 7-87530838-C-CAAGAAAGAATGA
• gnomAD v4: 7-87530838-C-CAAGAAAGAATGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530847_87530848insTGAAAGAAAGAA , CM000669.2:g.87530847_87530848insTGAAAGAAAGAA	GRCh38
NC_000007.13:g.87160163_87160164insTGAAAGAAAGAA , CM000669.1:g.87160163_87160164insTGAAAGAAAGAA	GRCh37
NC_000007.12:g.86998099_86998100insTGAAAGAAAGAA	NCBI36
NG_011513.1:g.187410_187411insTCATTCTTTCTT

Transcript Alleles

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