Canonical Allele Identifier: CA1104126217
Gene: ABCB1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530881del , CM000669.2:g.87530881del GRCh38
NC_000007.13:g.87160197del , CM000669.1:g.87160197del GRCh37
NC_000007.12:g.86998133del NCBI36
NG_011513.1:g.187370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+415del ENSP00000265724.3:n.2685+415del
ENST00000622132.5:c.2685+415del MANE Select ENSP00000478255.1:n.2685+415del
ENST00000265724.7:c.2685+415del ENSP00000265724.3:n.2685+415del
ENST00000488737.6:n.327+415del
ENST00000496821.5:n.313+415del
ENST00000543898.5:c.2493+415del ENSP00000444095.1:n.2493+415del
ENST00000622132.4:c.2685+415del ENSP00000478255.1:n.2685+415del
NM_000927.4:c.2685+415del NP_000918.2:n.2685+415del
NM_001348944.1:c.2685+415del NP_001335873.1:n.2685+415del
NM_001348945.1:c.2895+415del NP_001335874.1:n.2895+415del
NM_001348946.1:c.2685+415del NP_001335875.1:n.2685+415del
NM_001348946.2:c.2685+415del MANE Select NP_001335875.1:n.2685+415del
NM_000927.5:c.2685+415del NP_000918.2:n.2685+415del
NM_001348944.2:c.2685+415del NP_001335873.1:n.2685+415del
NM_001348945.2:c.2895+415del NP_001335874.1:n.2895+415del