Canonical Allele Identifier: CA162110621

Gene: ABCB1

Linked Data

• dbSNP Id: rs954243730
• gnomAD v3: 7-87530903-GGGAA-G
• gnomAD v4: 7-87530903-GGGAA-G
• MyVariant Identifiers: chr7:g.87160220_87160223del (hg19) ; chr7:g.87530904_87530907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530912_87530915del , CM000669.2:g.87530912_87530915del	GRCh38
NC_000007.13:g.87160228_87160231del , CM000669.1:g.87160228_87160231del	GRCh37
NC_000007.12:g.86998164_86998167del	NCBI36
NG_011513.1:g.187342_187345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+387_2685+390del	ENSP00000265724.3:n.2685+387_2685+390del
ENST00000622132.5:c.2685+387_2685+390del MANE Select	ENSP00000478255.1:n.2685+387_2685+390del
ENST00000265724.7:c.2685+387_2685+390del	ENSP00000265724.3:n.2685+387_2685+390del
ENST00000488737.6:n.327+387_327+390del
ENST00000496821.5:n.313+387_313+390del
ENST00000543898.5:c.2493+387_2493+390del	ENSP00000444095.1:n.2493+387_2493+390del
ENST00000622132.4:c.2685+387_2685+390del	ENSP00000478255.1:n.2685+387_2685+390del
NM_000927.4:c.2685+387_2685+390del	NP_000918.2:n.2685+387_2685+390del
NM_001348944.1:c.2685+387_2685+390del	NP_001335873.1:n.2685+387_2685+390del
NM_001348945.1:c.2895+387_2895+390del	NP_001335874.1:n.2895+387_2895+390del
NM_001348946.1:c.2685+387_2685+390del	NP_001335875.1:n.2685+387_2685+390del
NM_001348946.2:c.2685+387_2685+390del MANE Select	NP_001335875.1:n.2685+387_2685+390del
NM_000927.5:c.2685+387_2685+390del	NP_000918.2:n.2685+387_2685+390del
NM_001348944.2:c.2685+387_2685+390del	NP_001335873.1:n.2685+387_2685+390del
NM_001348945.2:c.2895+387_2895+390del	NP_001335874.1:n.2895+387_2895+390del