Canonical Allele Identifier: CA1723631021
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1816283914

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87536229_87536232del , CM000669.2:g.87536229_87536232del GRCh38
NC_000007.13:g.87165545_87165548del , CM000669.1:g.87165545_87165548del GRCh37
NC_000007.12:g.87003481_87003484del NCBI36
NG_011513.1:g.182019_182022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2481+228_2481+231del ENSP00000265724.3:n.2481+228_2481+231del
ENST00000622132.5:c.2481+228_2481+231del MANE Select ENSP00000478255.1:n.2481+228_2481+231del
ENST00000265724.7:c.2481+228_2481+231del ENSP00000265724.3:n.2481+228_2481+231del
ENST00000496821.5:n.109+228_109+231del
ENST00000543898.5:c.2289+228_2289+231del ENSP00000444095.1:n.2289+228_2289+231del
ENST00000622132.4:c.2481+228_2481+231del ENSP00000478255.1:n.2481+228_2481+231del
NM_000927.4:c.2481+228_2481+231del NP_000918.2:n.2481+228_2481+231del
NM_001348944.1:c.2481+228_2481+231del NP_001335873.1:n.2481+228_2481+231del
NM_001348945.1:c.2691+228_2691+231del NP_001335874.1:n.2691+228_2691+231del
NM_001348946.1:c.2481+228_2481+231del NP_001335875.1:n.2481+228_2481+231del
NM_001348946.2:c.2481+228_2481+231del MANE Select NP_001335875.1:n.2481+228_2481+231del
NM_000927.5:c.2481+228_2481+231del NP_000918.2:n.2481+228_2481+231del
NM_001348944.2:c.2481+228_2481+231del NP_001335873.1:n.2481+228_2481+231del
NM_001348945.2:c.2691+228_2691+231del NP_001335874.1:n.2691+228_2691+231del