Canonical Allele Identifier: CA1723630570
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87530580_87530581delinsGA , CM000669.2:g.87530580_87530581delinsGA GRCh38
NC_000007.13:g.87159896_87159897delinsGA , CM000669.1:g.87159896_87159897delinsGA GRCh37
NC_000007.12:g.86997832_86997833delinsGA NCBI36
NG_011513.1:g.187668_187669delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2685+713_2685+714delinsTC ENSP00000265724.3:n.2685+713_2685+714delinsTC
ENST00000622132.5:c.2685+713_2685+714delinsTC MANE Select ENSP00000478255.1:n.2685+713_2685+714delinsTC
ENST00000265724.7:c.2685+713_2685+714delinsTC ENSP00000265724.3:n.2685+713_2685+714delinsTC
ENST00000488737.6:n.327+713_327+714delinsTC
ENST00000496821.5:n.313+713_313+714delinsTC
ENST00000543898.5:c.2493+713_2493+714delinsTC ENSP00000444095.1:n.2493+713_2493+714delinsTC
ENST00000622132.4:c.2685+713_2685+714delinsTC ENSP00000478255.1:n.2685+713_2685+714delinsTC
NM_000927.4:c.2685+713_2685+714delinsTC NP_000918.2:n.2685+713_2685+714delinsTC
NM_001348944.1:c.2685+713_2685+714delinsTC NP_001335873.1:n.2685+713_2685+714delinsTC
NM_001348945.1:c.2895+713_2895+714delinsTC NP_001335874.1:n.2895+713_2895+714delinsTC
NM_001348946.1:c.2685+713_2685+714delinsTC NP_001335875.1:n.2685+713_2685+714delinsTC
NM_001348946.2:c.2685+713_2685+714delinsTC MANE Select NP_001335875.1:n.2685+713_2685+714delinsTC
NM_000927.5:c.2685+713_2685+714delinsTC NP_000918.2:n.2685+713_2685+714delinsTC
NM_001348944.2:c.2685+713_2685+714delinsTC NP_001335873.1:n.2685+713_2685+714delinsTC
NM_001348945.2:c.2895+713_2895+714delinsTC NP_001335874.1:n.2895+713_2895+714delinsTC