Canonical Allele Identifier: CA2715252288
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs2130005837

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87600800_87600802del , CM000669.2:g.87600800_87600802del GRCh38
NC_000007.13:g.87230116_87230118del , CM000669.1:g.87230116_87230118del GRCh37
NC_000007.12:g.87068052_87068054del NCBI36
NG_011513.1:g.117452_117454del

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.-49_-47del ENSP00000265724.3:n.-49_-47del
ENST00000622132.5:c.-49_-47del MANE Select ENSP00000478255.1:n.-49_-47del
ENST00000265724.7:c.-49_-47del ENSP00000265724.3:n.-49_-47del
ENST00000416177.1:c.-49_-47del ENSP00000399419.1:n.-49_-47del
ENST00000543898.5:c.-49_-47del ENSP00000444095.1:n.-49_-47del
ENST00000622132.4:c.-49_-47del ENSP00000478255.1:n.-49_-47del
NM_000927.4:c.-49_-47del NP_000918.2:n.-49_-47del
NM_001348944.1:c.-49_-47del NP_001335873.1:n.-49_-47del
NM_001348945.1:c.162_164del NP_001335874.1:p.Ser55del
NM_001348946.1:c.-49_-47del NP_001335875.1:n.-49_-47del
NM_001348946.2:c.-49_-47del MANE Select NP_001335875.1:n.-49_-47del
NM_000927.5:c.-49_-47del NP_000918.2:n.-49_-47del
NM_001348944.2:c.-49_-47del NP_001335873.1:n.-49_-47del
NM_001348945.2:c.162_164del NP_001335874.1:p.Ser55del