Canonical Allele Identifier: CA162110360

Gene: ABCB1

Linked Data

• dbSNP Id: rs202065141
• gnomAD v2: 7-87160106-AAAGAAAGC-A
• gnomAD v3: 7-87530790-AAAGAAAGC-A
• gnomAD v4: 7-87530790-AAAGAAAGC-A
• MyVariant Identifiers: chr7:g.87160123_87160130del (hg19) ; chr7:g.87160107_87160114del (hg19) ; chr7:g.87530807_87530814del (hg38) ; chr7:g.87530791_87530798del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530838_87530845del , CM000669.2:g.87530838_87530845del	GRCh38
NC_000007.13:g.87160154_87160161del , CM000669.1:g.87160154_87160161del	GRCh37
NC_000007.12:g.86998090_86998097del	NCBI36
NG_011513.1:g.187451_187458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+496_2685+503del	ENSP00000265724.3:n.2685+496_2685+503del
ENST00000622132.5:c.2685+496_2685+503del MANE Select	ENSP00000478255.1:n.2685+496_2685+503del
ENST00000265724.7:c.2685+496_2685+503del	ENSP00000265724.3:n.2685+496_2685+503del
ENST00000488737.6:n.327+496_327+503del
ENST00000496821.5:n.313+496_313+503del
ENST00000543898.5:c.2493+496_2493+503del	ENSP00000444095.1:n.2493+496_2493+503del
ENST00000622132.4:c.2685+496_2685+503del	ENSP00000478255.1:n.2685+496_2685+503del
NM_000927.4:c.2685+496_2685+503del	NP_000918.2:n.2685+496_2685+503del
NM_001348944.1:c.2685+496_2685+503del	NP_001335873.1:n.2685+496_2685+503del
NM_001348945.1:c.2895+496_2895+503del	NP_001335874.1:n.2895+496_2895+503del
NM_001348946.1:c.2685+496_2685+503del	NP_001335875.1:n.2685+496_2685+503del
NM_001348946.2:c.2685+496_2685+503del MANE Select	NP_001335875.1:n.2685+496_2685+503del
NM_000927.5:c.2685+496_2685+503del	NP_000918.2:n.2685+496_2685+503del
NM_001348944.2:c.2685+496_2685+503del	NP_001335873.1:n.2685+496_2685+503del
NM_001348945.2:c.2895+496_2895+503del	NP_001335874.1:n.2895+496_2895+503del