Canonical Allele Identifier: CA576267701

Gene: ABCB1

Linked Data

• dbSNP Id: rs1563037937
• gnomAD v2: 7-87160848-ATAT-A
• gnomAD v4: 7-87531532-ATAT-A
• MyVariant Identifiers: chr7:g.87160849_87160851del (hg19) ; chr7:g.87531533_87531535del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87531536_87531538del , CM000669.2:g.87531536_87531538del	GRCh38
NC_000007.13:g.87160852_87160854del , CM000669.1:g.87160852_87160854del	GRCh37
NC_000007.12:g.86998788_86998790del	NCBI36
NG_011513.1:g.186714_186716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2482-38_2482-36del	ENSP00000265724.3:n.2482-38_2482-36del
ENST00000622132.5:c.2482-38_2482-36del MANE Select	ENSP00000478255.1:n.2482-38_2482-36del
ENST00000265724.7:c.2482-38_2482-36del	ENSP00000265724.3:n.2482-38_2482-36del
ENST00000488737.6:n.124-38_124-36del
ENST00000496821.5:n.110-38_110-36del
ENST00000543898.5:c.2290-38_2290-36del	ENSP00000444095.1:n.2290-38_2290-36del
ENST00000622132.4:c.2482-38_2482-36del	ENSP00000478255.1:n.2482-38_2482-36del
NM_000927.4:c.2482-38_2482-36del	NP_000918.2:n.2482-38_2482-36del
NM_001348944.1:c.2482-38_2482-36del	NP_001335873.1:n.2482-38_2482-36del
NM_001348945.1:c.2692-38_2692-36del	NP_001335874.1:n.2692-38_2692-36del
NM_001348946.1:c.2482-38_2482-36del	NP_001335875.1:n.2482-38_2482-36del
NM_001348946.2:c.2482-38_2482-36del MANE Select	NP_001335875.1:n.2482-38_2482-36del
NM_000927.5:c.2482-38_2482-36del	NP_000918.2:n.2482-38_2482-36del
NM_001348944.2:c.2482-38_2482-36del	NP_001335873.1:n.2482-38_2482-36del
NM_001348945.2:c.2692-38_2692-36del	NP_001335874.1:n.2692-38_2692-36del