Canonical Allele Identifier: CA162472382

Gene: ABCB1

Linked Data

• dbSNP Id: rs550343398
• gnomAD v2: 7-87213040-CTTAGT-C
• gnomAD v3: 7-87583724-CTTAGT-C
• gnomAD v4: 7-87583724-CTTAGT-C
• MyVariant Identifiers: chr7:g.87213041_87213045del (hg19) ; chr7:g.87583725_87583729del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87583725_87583729del , CM000669.2:g.87583725_87583729del	GRCh38
NC_000007.13:g.87213041_87213045del , CM000669.1:g.87213041_87213045del	GRCh37
NC_000007.12:g.87050977_87050981del	NCBI36
NG_011513.1:g.134520_134524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.286+1783_286+1787del	ENSP00000265724.3:n.286+1783_286+1787del
ENST00000622132.5:c.286+1783_286+1787del MANE Select	ENSP00000478255.1:n.286+1783_286+1787del
ENST00000265724.7:c.286+1783_286+1787del	ENSP00000265724.3:n.286+1783_286+1787del
ENST00000543898.5:c.286+1783_286+1787del	ENSP00000444095.1:n.286+1783_286+1787del
ENST00000622132.4:c.286+1783_286+1787del	ENSP00000478255.1:n.286+1783_286+1787del
NM_000927.4:c.286+1783_286+1787del	NP_000918.2:n.286+1783_286+1787del
NM_001348944.1:c.286+1783_286+1787del	NP_001335873.1:n.286+1783_286+1787del
NM_001348945.1:c.496+1783_496+1787del	NP_001335874.1:n.496+1783_496+1787del
NM_001348946.1:c.286+1783_286+1787del	NP_001335875.1:n.286+1783_286+1787del
NM_001348946.2:c.286+1783_286+1787del MANE Select	NP_001335875.1:n.286+1783_286+1787del
NM_000927.5:c.286+1783_286+1787del	NP_000918.2:n.286+1783_286+1787del
NM_001348944.2:c.286+1783_286+1787del	NP_001335873.1:n.286+1783_286+1787del
NM_001348945.2:c.496+1783_496+1787del	NP_001335874.1:n.496+1783_496+1787del