Canonical Allele Identifier: CA3049071319
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530804_87530805insAGAAC , CM000669.2:g.87530804_87530805insAGAAC GRCh38
NC_000007.13:g.87160120_87160121insAGAAC , CM000669.1:g.87160120_87160121insAGAAC GRCh37
NC_000007.12:g.86998056_86998057insAGAAC NCBI36
NG_011513.1:g.187444_187445insGTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+489_2685+490insGTTCT ENSP00000265724.3:n.2685+489_2685+490insGTTCT
ENST00000622132.5:c.2685+489_2685+490insGTTCT MANE Select ENSP00000478255.1:n.2685+489_2685+490insGTTCT
ENST00000265724.7:c.2685+489_2685+490insGTTCT ENSP00000265724.3:n.2685+489_2685+490insGTTCT
ENST00000488737.6:n.327+489_327+490insGTTCT
ENST00000496821.5:n.313+489_313+490insGTTCT
ENST00000543898.5:c.2493+489_2493+490insGTTCT ENSP00000444095.1:n.2493+489_2493+490insGTTCT
ENST00000622132.4:c.2685+489_2685+490insGTTCT ENSP00000478255.1:n.2685+489_2685+490insGTTCT
NM_000927.4:c.2685+489_2685+490insGTTCT NP_000918.2:n.2685+489_2685+490insGTTCT
NM_001348944.1:c.2685+489_2685+490insGTTCT NP_001335873.1:n.2685+489_2685+490insGTTCT
NM_001348945.1:c.2895+489_2895+490insGTTCT NP_001335874.1:n.2895+489_2895+490insGTTCT
NM_001348946.1:c.2685+489_2685+490insGTTCT NP_001335875.1:n.2685+489_2685+490insGTTCT
NM_001348946.2:c.2685+489_2685+490insGTTCT MANE Select NP_001335875.1:n.2685+489_2685+490insGTTCT
NM_000927.5:c.2685+489_2685+490insGTTCT NP_000918.2:n.2685+489_2685+490insGTTCT
NM_001348944.2:c.2685+489_2685+490insGTTCT NP_001335873.1:n.2685+489_2685+490insGTTCT
NM_001348945.2:c.2895+489_2895+490insGTTCT NP_001335874.1:n.2895+489_2895+490insGTTCT