Canonical Allele Identifier: CA3262801896
Community Standard Title: NM_001348946.2(ABCB1):c.2685+360_2685+367del
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530937_87530944del , CM000669.2:g.87530937_87530944del GRCh38
NC_000007.13:g.87160253_87160260del , CM000669.1:g.87160253_87160260del GRCh37
NC_000007.12:g.86998189_86998196del NCBI36
NG_011513.1:g.187315_187322del

Transcript Alleles

HGVS Amino-acid Change
NM_001348946.2:c.2685+360_2685+367del MANE Select NP_001335875.1:n.2685+360_2685+367del
ENST00000622132.5:c.2685+360_2685+367del MANE Select ENSP00000478255.1:n.2685+360_2685+367del
NM_000927.4:c.2685+360_2685+367del NP_000918.2:n.2685+360_2685+367del
NM_000927.5:c.2685+360_2685+367del NP_000918.2:n.2685+360_2685+367del
NM_001348944.1:c.2685+360_2685+367del NP_001335873.1:n.2685+360_2685+367del
NM_001348944.2:c.2685+360_2685+367del NP_001335873.1:n.2685+360_2685+367del
NM_001348945.1:c.2895+360_2895+367del NP_001335874.1:n.2895+360_2895+367del
NM_001348945.2:c.2895+360_2895+367del NP_001335874.1:n.2895+360_2895+367del
NM_001348946.1:c.2685+360_2685+367del NP_001335875.1:n.2685+360_2685+367del
ENST00000265724.7:c.2685+360_2685+367del ENSP00000265724.3:n.2685+360_2685+367del
ENST00000265724.8:c.2685+360_2685+367del ENSP00000265724.3:n.2685+360_2685+367del
ENST00000488737.6:n.327+360_327+367del
ENST00000496821.5:n.313+360_313+367del
ENST00000543898.5:c.2493+360_2493+367del ENSP00000444095.1:n.2493+360_2493+367del
ENST00000622132.4:c.2685+360_2685+367del ENSP00000478255.1:n.2685+360_2685+367del