Canonical Allele Identifier: CA1723631718
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1816028279

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530933_87530934insCAGCCTGCTTGACTGGGACTGTCCA , CM000669.2:g.87530933_87530934insCAGCCTGCTTGACTGGGACTGTCCA GRCh38
NC_000007.13:g.87160249_87160250insCAGCCTGCTTGACTGGGACTGTCCA , CM000669.1:g.87160249_87160250insCAGCCTGCTTGACTGGGACTGTCCA GRCh37
NC_000007.12:g.86998185_86998186insCAGCCTGCTTGACTGGGACTGTCCA NCBI36
NG_011513.1:g.187315_187316insTGGACAGTCCCAGTCAAGCAGGCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG ENSP00000265724.3:n.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAG...
ENST00000622132.5:c.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG MANE Select ENSP00000478255.1:n.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAG...
ENST00000265724.7:c.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG ENSP00000265724.3:n.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAG...
ENST00000488737.6:n.327+360_327+361insTGGACAGTCCCAGTCAAGCAGGCTG
ENST00000496821.5:n.313+360_313+361insTGGACAGTCCCAGTCAAGCAGGCTG
ENST00000543898.5:c.2493+360_2493+361insTGGACAGTCCCAGTCAAGCAGGCTG ENSP00000444095.1:n.2493+360_2493+361insTGGACAGTCCCAGTCAAGCAG...
ENST00000622132.4:c.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG ENSP00000478255.1:n.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAG...
NM_000927.4:c.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG NP_000918.2:n.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG
NM_001348944.1:c.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG NP_001335873.1:n.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCT...
NM_001348945.1:c.2895+360_2895+361insTGGACAGTCCCAGTCAAGCAGGCTG NP_001335874.1:n.2895+360_2895+361insTGGACAGTCCCAGTCAAGCAGGCT...
NM_001348946.1:c.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG NP_001335875.1:n.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCT...
NM_001348946.2:c.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG MANE Select NP_001335875.1:n.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCT...
NM_000927.5:c.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG NP_000918.2:n.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG
NM_001348944.2:c.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCTG NP_001335873.1:n.2685+360_2685+361insTGGACAGTCCCAGTCAAGCAGGCT...
NM_001348945.2:c.2895+360_2895+361insTGGACAGTCCCAGTCAAGCAGGCTG NP_001335874.1:n.2895+360_2895+361insTGGACAGTCCCAGTCAAGCAGGCT...