Canonical Allele Identifier: CA576126779

Gene: ABCB1

Linked Data

• dbSNP Id: rs1280081402
• gnomAD v2: 7-87230148-GAA-G
• gnomAD v3: 7-87600832-GAA-G
• gnomAD v4: 7-87600832-GAA-G
• MyVariant Identifiers: chr7:g.87230149_87230150del (hg19) ; chr7:g.87600833_87600834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87600834_87600835del , CM000669.2:g.87600834_87600835del	GRCh38
NC_000007.13:g.87230150_87230151del , CM000669.1:g.87230150_87230151del	GRCh37
NC_000007.12:g.87068086_87068087del	NCBI36
NG_011513.1:g.117415_117416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.-86_-85del	ENSP00000265724.3:n.-86_-85del
ENST00000622132.5:c.-86_-85del MANE Select	ENSP00000478255.1:n.-86_-85del
ENST00000265724.7:c.-86_-85del	ENSP00000265724.3:n.-86_-85del
ENST00000416177.1:c.-77-9_-77-8del	ENSP00000399419.1:n.-77-9_-77-8del
ENST00000476862.1:n.561_562del
ENST00000543898.5:c.-86_-85del	ENSP00000444095.1:n.-86_-85del
ENST00000622132.4:c.-86_-85del	ENSP00000478255.1:n.-86_-85del
NM_000927.4:c.-86_-85del	NP_000918.2:n.-86_-85del
NM_001348944.1:c.-77-9_-77-8del	NP_001335873.1:n.-77-9_-77-8del
NM_001348945.1:c.134-9_134-8del	NP_001335874.1:n.134-9_134-8del
NM_001348946.1:c.-86_-85del	NP_001335875.1:n.-86_-85del
NM_001348946.2:c.-86_-85del MANE Select	NP_001335875.1:n.-86_-85del
NM_000927.5:c.-86_-85del	NP_000918.2:n.-86_-85del
NM_001348944.2:c.-77-9_-77-8del	NP_001335873.1:n.-77-9_-77-8del
NM_001348945.2:c.134-9_134-8del	NP_001335874.1:n.134-9_134-8del