Canonical Allele Identifier: CA575861937

Gene: ABCB1

Linked Data

• dbSNP Id: rs1280486795
• gnomAD v2: 7-87160142-AAAGCAAGAAAGC-A
• gnomAD v3: 7-87530826-AAAGCAAGAAAGC-A
• gnomAD v4: 7-87530826-AAAGCAAGAAAGC-A
• MyVariant Identifiers: chr7:g.87160143_87160154del (hg19) ; chr7:g.87530827_87530838del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530830_87530841del , CM000669.2:g.87530830_87530841del	GRCh38
NC_000007.13:g.87160146_87160157del , CM000669.1:g.87160146_87160157del	GRCh37
NC_000007.12:g.86998082_86998093del	NCBI36
NG_011513.1:g.187411_187422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+456_2685+467del	ENSP00000265724.3:n.2685+456_2685+467del
ENST00000622132.5:c.2685+456_2685+467del MANE Select	ENSP00000478255.1:n.2685+456_2685+467del
ENST00000265724.7:c.2685+456_2685+467del	ENSP00000265724.3:n.2685+456_2685+467del
ENST00000488737.6:n.327+456_327+467del
ENST00000496821.5:n.313+456_313+467del
ENST00000543898.5:c.2493+456_2493+467del	ENSP00000444095.1:n.2493+456_2493+467del
ENST00000622132.4:c.2685+456_2685+467del	ENSP00000478255.1:n.2685+456_2685+467del
NM_000927.4:c.2685+456_2685+467del	NP_000918.2:n.2685+456_2685+467del
NM_001348944.1:c.2685+456_2685+467del	NP_001335873.1:n.2685+456_2685+467del
NM_001348945.1:c.2895+456_2895+467del	NP_001335874.1:n.2895+456_2895+467del
NM_001348946.1:c.2685+456_2685+467del	NP_001335875.1:n.2685+456_2685+467del
NM_001348946.2:c.2685+456_2685+467del MANE Select	NP_001335875.1:n.2685+456_2685+467del
NM_000927.5:c.2685+456_2685+467del	NP_000918.2:n.2685+456_2685+467del
NM_001348944.2:c.2685+456_2685+467del	NP_001335873.1:n.2685+456_2685+467del
NM_001348945.2:c.2895+456_2895+467del	NP_001335874.1:n.2895+456_2895+467del