Canonical Allele Identifier: CA2715248169
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs2129711548

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550568_87550569insGGTACAGTGATAAATGAT , CM000669.2:g.87550568_87550569insGGTACAGTGATAAATGAT GRCh38
NC_000007.13:g.87179884_87179885insGGTACAGTGATAAATGAT , CM000669.1:g.87179884_87179885insGGTACAGTGATAAATGAT GRCh37
NC_000007.12:g.87017820_87017821insGGTACAGTGATAAATGAT NCBI36
NG_011513.1:g.167680_167681insATCATTTATCACTGTACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1123_1124insATCATTTATCACTGTACC ENSP00000265724.3:p.Ile375delinsAsnHisLeuSerLeuTyrLeu
ENST00000622132.5:c.1123_1124insATCATTTATCACTGTACC MANE Select ENSP00000478255.1:p.Ile375delinsAsnHisLeuSerLeuTyrLeu
ENST00000265724.7:c.1123_1124insATCATTTATCACTGTACC ENSP00000265724.3:p.Ile375delinsAsnHisLeuSerLeuTyrLeu
ENST00000543898.5:c.931_932insATCATTTATCACTGTACC ENSP00000444095.1:p.Ile311delinsAsnHisLeuSerLeuTyrLeu
ENST00000622132.4:c.1123_1124insATCATTTATCACTGTACC ENSP00000478255.1:p.Ile375delinsAsnHisLeuSerLeuTyrLeu
NM_000927.4:c.1123_1124insATCATTTATCACTGTACC NP_000918.2:p.Ile375delinsAsnHisLeuSerLeuTyrLeu
NM_001348944.1:c.1123_1124insATCATTTATCACTGTACC NP_001335873.1:p.Ile375delinsAsnHisLeuSerLeuTyrLeu
NM_001348945.1:c.1333_1334insATCATTTATCACTGTACC NP_001335874.1:p.Ile445delinsAsnHisLeuSerLeuTyrLeu
NM_001348946.1:c.1123_1124insATCATTTATCACTGTACC NP_001335875.1:p.Ile375delinsAsnHisLeuSerLeuTyrLeu
NM_001348946.2:c.1123_1124insATCATTTATCACTGTACC MANE Select NP_001335875.1:p.Ile375delinsAsnHisLeuSerLeuTyrLeu
NM_000927.5:c.1123_1124insATCATTTATCACTGTACC NP_000918.2:p.Ile375delinsAsnHisLeuSerLeuTyrLeu
NM_001348944.2:c.1123_1124insATCATTTATCACTGTACC NP_001335873.1:p.Ile375delinsAsnHisLeuSerLeuTyrLeu
NM_001348945.2:c.1333_1334insATCATTTATCACTGTACC NP_001335874.1:p.Ile445delinsAsnHisLeuSerLeuTyrLeu