Canonical Allele Identifier: CA576267689

Gene: ABCB1

Linked Data

• dbSNP Id: rs1272516361
• gnomAD v2: 7-87160577-CTTAA-C
• gnomAD v4: 7-87531261-CTTAA-C
• MyVariant Identifiers: chr7:g.87160578_87160581del (hg19) ; chr7:g.87531262_87531265del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87531267_87531270del , CM000669.2:g.87531267_87531270del	GRCh38
NC_000007.13:g.87160583_87160586del , CM000669.1:g.87160583_87160586del	GRCh37
NC_000007.12:g.86998519_86998522del	NCBI36
NG_011513.1:g.186984_186987del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.2685+29_2685+32del	ENSP00000265724.3:n.2685+29_2685+32del
ENST00000622132.5:c.2685+29_2685+32del MANE Select	ENSP00000478255.1:n.2685+29_2685+32del
ENST00000265724.7:c.2685+29_2685+32del	ENSP00000265724.3:n.2685+29_2685+32del
ENST00000488737.6:n.327+29_327+32del
ENST00000496821.5:n.313+29_313+32del
ENST00000543898.5:c.2493+29_2493+32del	ENSP00000444095.1:n.2493+29_2493+32del
ENST00000622132.4:c.2685+29_2685+32del	ENSP00000478255.1:n.2685+29_2685+32del
NM_000927.4:c.2685+29_2685+32del	NP_000918.2:n.2685+29_2685+32del
NM_001348944.1:c.2685+29_2685+32del	NP_001335873.1:n.2685+29_2685+32del
NM_001348945.1:c.2895+29_2895+32del	NP_001335874.1:n.2895+29_2895+32del
NM_001348946.1:c.2685+29_2685+32del	NP_001335875.1:n.2685+29_2685+32del
NM_001348946.2:c.2685+29_2685+32del MANE Select	NP_001335875.1:n.2685+29_2685+32del
NM_000927.5:c.2685+29_2685+32del	NP_000918.2:n.2685+29_2685+32del
NM_001348944.2:c.2685+29_2685+32del	NP_001335873.1:n.2685+29_2685+32del
NM_001348945.2:c.2895+29_2895+32del	NP_001335874.1:n.2895+29_2895+32del