Canonical Allele Identifier: CA3263335265
Community Standard Title: NM_001348946.2(ABCB1):c.2685+299_2685+300insG
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530994_87530995insC , CM000669.2:g.87530994_87530995insC GRCh38
NC_000007.13:g.87160310_87160311insC , CM000669.1:g.87160310_87160311insC GRCh37
NC_000007.12:g.86998246_86998247insC NCBI36
NG_011513.1:g.187254_187255insG

Transcript Alleles

HGVS Amino-acid Change
NM_001348946.2:c.2685+299_2685+300insG MANE Select NP_001335875.1:n.2685+299_2685+300insG
ENST00000622132.5:c.2685+299_2685+300insG MANE Select ENSP00000478255.1:n.2685+299_2685+300insG
NM_000927.4:c.2685+299_2685+300insG NP_000918.2:n.2685+299_2685+300insG
NM_000927.5:c.2685+299_2685+300insG NP_000918.2:n.2685+299_2685+300insG
NM_001348944.1:c.2685+299_2685+300insG NP_001335873.1:n.2685+299_2685+300insG
NM_001348944.2:c.2685+299_2685+300insG NP_001335873.1:n.2685+299_2685+300insG
NM_001348945.1:c.2895+299_2895+300insG NP_001335874.1:n.2895+299_2895+300insG
NM_001348945.2:c.2895+299_2895+300insG NP_001335874.1:n.2895+299_2895+300insG
NM_001348946.1:c.2685+299_2685+300insG NP_001335875.1:n.2685+299_2685+300insG
ENST00000265724.7:c.2685+299_2685+300insG ENSP00000265724.3:n.2685+299_2685+300insG
ENST00000265724.8:c.2685+299_2685+300insG ENSP00000265724.3:n.2685+299_2685+300insG
ENST00000488737.6:n.327+299_327+300insG
ENST00000496821.5:n.313+299_313+300insG
ENST00000543898.5:c.2493+299_2493+300insG ENSP00000444095.1:n.2493+299_2493+300insG
ENST00000622132.4:c.2685+299_2685+300insG ENSP00000478255.1:n.2685+299_2685+300insG