Canonical Allele Identifier: CA4327987

Gene: ABCB1

Linked Data

• dbSNP Id: rs769389810
• ExAC: 7:87160592 ATATT / A
• gnomAD v2: 7-87160592-ATATT-A
• gnomAD v3: 7-87531276-ATATT-A
• gnomAD v4: 7-87531276-ATATT-A
• MyVariant Identifiers: chr7:g.87160593_87160596del (hg19) ; chr7:g.87531277_87531280del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87531279_87531282del , CM000669.2:g.87531279_87531282del	GRCh38
NC_000007.13:g.87160595_87160598del , CM000669.1:g.87160595_87160598del	GRCh37
NC_000007.12:g.86998531_86998534del	NCBI36
NG_011513.1:g.186969_186972del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.2685+14_2685+17del	ENSP00000265724.3:n.2685+14_2685+17del
ENST00000622132.5:c.2685+14_2685+17del MANE Select	ENSP00000478255.1:n.2685+14_2685+17del
ENST00000265724.7:c.2685+14_2685+17del	ENSP00000265724.3:n.2685+14_2685+17del
ENST00000488737.6:n.327+14_327+17del
ENST00000496821.5:n.313+14_313+17del
ENST00000543898.5:c.2493+14_2493+17del	ENSP00000444095.1:n.2493+14_2493+17del
ENST00000622132.4:c.2685+14_2685+17del	ENSP00000478255.1:n.2685+14_2685+17del
NM_000927.4:c.2685+14_2685+17del	NP_000918.2:n.2685+14_2685+17del
NM_001348944.1:c.2685+14_2685+17del	NP_001335873.1:n.2685+14_2685+17del
NM_001348945.1:c.2895+14_2895+17del	NP_001335874.1:n.2895+14_2895+17del
NM_001348946.1:c.2685+14_2685+17del	NP_001335875.1:n.2685+14_2685+17del
NM_001348946.2:c.2685+14_2685+17del MANE Select	NP_001335875.1:n.2685+14_2685+17del
NM_000927.5:c.2685+14_2685+17del	NP_000918.2:n.2685+14_2685+17del
NM_001348944.2:c.2685+14_2685+17del	NP_001335873.1:n.2685+14_2685+17del
NM_001348945.2:c.2895+14_2895+17del	NP_001335874.1:n.2895+14_2895+17del