Canonical Allele Identifier: CA575861938

Gene: ABCB1

Linked Data

• dbSNP Id: rs748946051
• gnomAD v2: 7-87160142-AAAGC-A
• gnomAD v3: 7-87530826-AAAGC-A
• gnomAD v4: 7-87530826-AAAGC-A
• MyVariant Identifiers: chr7:g.87160143_87160146del (hg19) ; chr7:g.87160146_87160154delinsAAAGC (hg19) ; chr7:g.87530827_87530830del (hg38) ; chr7:g.87530830_87530838delinsAAAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530830_87530833del , CM000669.2:g.87530830_87530833del	GRCh38
NC_000007.13:g.87160146_87160149del , CM000669.1:g.87160146_87160149del	GRCh37
NC_000007.12:g.86998082_86998085del	NCBI36
NG_011513.1:g.187419_187422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+464_2685+467del	ENSP00000265724.3:n.2685+464_2685+467del
ENST00000622132.5:c.2685+464_2685+467del MANE Select	ENSP00000478255.1:n.2685+464_2685+467del
ENST00000265724.7:c.2685+464_2685+467del	ENSP00000265724.3:n.2685+464_2685+467del
ENST00000488737.6:n.327+464_327+467del
ENST00000496821.5:n.313+464_313+467del
ENST00000543898.5:c.2493+464_2493+467del	ENSP00000444095.1:n.2493+464_2493+467del
ENST00000622132.4:c.2685+464_2685+467del	ENSP00000478255.1:n.2685+464_2685+467del
NM_000927.4:c.2685+464_2685+467del	NP_000918.2:n.2685+464_2685+467del
NM_001348944.1:c.2685+464_2685+467del	NP_001335873.1:n.2685+464_2685+467del
NM_001348945.1:c.2895+464_2895+467del	NP_001335874.1:n.2895+464_2895+467del
NM_001348946.1:c.2685+464_2685+467del	NP_001335875.1:n.2685+464_2685+467del
NM_001348946.2:c.2685+464_2685+467del MANE Select	NP_001335875.1:n.2685+464_2685+467del
NM_000927.5:c.2685+464_2685+467del	NP_000918.2:n.2685+464_2685+467del
NM_001348944.2:c.2685+464_2685+467del	NP_001335873.1:n.2685+464_2685+467del
NM_001348945.2:c.2895+464_2895+467del	NP_001335874.1:n.2895+464_2895+467del