Canonical Allele Identifier: CA2683608271

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87550033-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550034del , CM000669.2:g.87550034del	GRCh38
NC_000007.13:g.87179350del , CM000669.1:g.87179350del	GRCh37
NC_000007.12:g.87017286del	NCBI36
NG_011513.1:g.168215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1371del	ENSP00000265724.3:p.Asp457GlufsTer5
ENST00000622132.5:c.1371del MANE Select	ENSP00000478255.1:p.Asp457GlufsTer5
ENST00000265724.7:c.1371del	ENSP00000265724.3:p.Asp457GlufsTer5
ENST00000482527.1:n.125del
ENST00000543898.5:c.1179del	ENSP00000444095.1:p.Asp393GlufsTer5
ENST00000622132.4:c.1371del	ENSP00000478255.1:p.Asp457GlufsTer5
NM_000927.4:c.1371del	NP_000918.2:p.Asp457GlufsTer5
NM_001348944.1:c.1371del	NP_001335873.1:p.Asp457GlufsTer5
NM_001348945.1:c.1581del	NP_001335874.1:p.Asp527GlufsTer5
NM_001348946.1:c.1371del	NP_001335875.1:p.Asp457GlufsTer5
NM_001348946.2:c.1371del MANE Select	NP_001335875.1:p.Asp457GlufsTer5
NM_000927.5:c.1371del	NP_000918.2:p.Asp457GlufsTer5
NM_001348944.2:c.1371del	NP_001335873.1:p.Asp457GlufsTer5
NM_001348945.2:c.1581del	NP_001335874.1:p.Asp527GlufsTer5