Canonical Allele Identifier: CA1723639364
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87540042_87540061delinsCCAGTGAGGCTGTAAGTACT , CM000669.2:g.87540042_87540061delinsCCAGTGAGGCTGTAAGTACT GRCh38
NC_000007.13:g.87169358_87169377delinsCCAGTGAGGCTGTAAGTACT , CM000669.1:g.87169358_87169377delinsCCAGTGAGGCTGTAAGTACT GRCh37
NC_000007.12:g.87007294_87007313delinsCCAGTGAGGCTGTAAGTACT NCBI36
NG_011513.1:g.178188_178207delinsAGTACTTACAGCCTCACTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.2320-716_2320-697delinsAGTACTTACAGCCTCACTGG ENSP00000265724.3:n.2320-716_2320-697deli...
ENST00000622132.5:c.2320-716_2320-697delinsAGTACTTACAGCCTCACTGG MANE Select ENSP00000478255.1:n.2320-716_2320-697deli...
ENST00000265724.7:c.2320-716_2320-697delinsAGTACTTACAGCCTCACTGG ENSP00000265724.3:n.2320-716_2320-697deli...
ENST00000543898.5:c.2128-716_2128-697delinsAGTACTTACAGCCTCACTGG ENSP00000444095.1:n.2128-716_2128-697deli...
ENST00000622132.4:c.2320-716_2320-697delinsAGTACTTACAGCCTCACTGG ENSP00000478255.1:n.2320-716_2320-697deli...
NM_000927.4:c.2320-716_2320-697delinsAGTACTTACAGCCTCACTGG NP_000918.2:n.2320-716_2320-697delinsAGTA...
NM_001348944.1:c.2320-716_2320-697delinsAGTACTTACAGCCTCACTGG NP_001335873.1:n.2320-716_2320-697delinsA...
NM_001348945.1:c.2530-716_2530-697delinsAGTACTTACAGCCTCACTGG NP_001335874.1:n.2530-716_2530-697delinsA...
NM_001348946.1:c.2320-716_2320-697delinsAGTACTTACAGCCTCACTGG NP_001335875.1:n.2320-716_2320-697delinsA...
NM_001348946.2:c.2320-716_2320-697delinsAGTACTTACAGCCTCACTGG MANE Select NP_001335875.1:n.2320-716_2320-697delinsA...
NM_000927.5:c.2320-716_2320-697delinsAGTACTTACAGCCTCACTGG NP_000918.2:n.2320-716_2320-697delinsAGTA...
NM_001348944.2:c.2320-716_2320-697delinsAGTACTTACAGCCTCACTGG NP_001335873.1:n.2320-716_2320-697delinsA...
NM_001348945.2:c.2530-716_2530-697delinsAGTACTTACAGCCTCACTGG NP_001335874.1:n.2530-716_2530-697delinsA...