Canonical Allele Identifier: CA2715248163

Gene: ABCB1

Linked Data

• dbSNP Id: rs2129711517

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550565_87550566insGATAAATGATTAATCAA , CM000669.2:g.87550565_87550566insGATAAATGATTAATCAA	GRCh38
NC_000007.13:g.87179881_87179882insGATAAATGATTAATCAA , CM000669.1:g.87179881_87179882insGATAAATGATTAATCAA	GRCh37
NC_000007.12:g.87017817_87017818insGATAAATGATTAATCAA	NCBI36
NG_011513.1:g.167683_167684insTTGATTAATCATTTATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1126_1127insTTGATTAATCATTTATC	ENSP00000265724.3:p.Asp376ValfsTer3
ENST00000622132.5:c.1126_1127insTTGATTAATCATTTATC MANE Select	ENSP00000478255.1:p.Asp376ValfsTer3
ENST00000265724.7:c.1126_1127insTTGATTAATCATTTATC	ENSP00000265724.3:p.Asp376ValfsTer3
ENST00000543898.5:c.934_935insTTGATTAATCATTTATC	ENSP00000444095.1:p.Asp312ValfsTer3
ENST00000622132.4:c.1126_1127insTTGATTAATCATTTATC	ENSP00000478255.1:p.Asp376ValfsTer3
NM_000927.4:c.1126_1127insTTGATTAATCATTTATC	NP_000918.2:p.Asp376ValfsTer3
NM_001348944.1:c.1126_1127insTTGATTAATCATTTATC	NP_001335873.1:p.Asp376ValfsTer3
NM_001348945.1:c.1336_1337insTTGATTAATCATTTATC	NP_001335874.1:p.Asp446ValfsTer3
NM_001348946.1:c.1126_1127insTTGATTAATCATTTATC	NP_001335875.1:p.Asp376ValfsTer3
NM_001348946.2:c.1126_1127insTTGATTAATCATTTATC MANE Select	NP_001335875.1:p.Asp376ValfsTer3
NM_000927.5:c.1126_1127insTTGATTAATCATTTATC	NP_000918.2:p.Asp376ValfsTer3
NM_001348944.2:c.1126_1127insTTGATTAATCATTTATC	NP_001335873.1:p.Asp376ValfsTer3
NM_001348945.2:c.1336_1337insTTGATTAATCATTTATC	NP_001335874.1:p.Asp446ValfsTer3