Canonical Allele Identifier: CA456356258

Gene: ABCB1

Linked Data

• dbSNP Id: rs1178779531
• gnomAD v2: 7-87160138-CAAGAAAGCAAGAAAGCAAGA-C
• gnomAD v3: 7-87530822-CAAGAAAGCAAGAAAGCAAGA-C
• gnomAD v4: 7-87530822-CAAGAAAGCAAGAAAGCAAGA-C
• MyVariant Identifiers: chr7:g.87160139_87160158del (hg19) ; chr7:g.87160146_87160170delinsAAAGA (hg19) ; chr7:g.87530823_87530842del (hg38) ; chr7:g.87530830_87530854delinsAAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530830_87530849del , CM000669.2:g.87530830_87530849del	GRCh38
NC_000007.13:g.87160146_87160165del , CM000669.1:g.87160146_87160165del	GRCh37
NC_000007.12:g.86998082_86998101del	NCBI36
NG_011513.1:g.187407_187426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+452_2685+471del	ENSP00000265724.3:n.2685+452_2685+471del
ENST00000622132.5:c.2685+452_2685+471del MANE Select	ENSP00000478255.1:n.2685+452_2685+471del
ENST00000265724.7:c.2685+452_2685+471del	ENSP00000265724.3:n.2685+452_2685+471del
ENST00000488737.6:n.327+452_327+471del
ENST00000496821.5:n.313+452_313+471del
ENST00000543898.5:c.2493+452_2493+471del	ENSP00000444095.1:n.2493+452_2493+471del
ENST00000622132.4:c.2685+452_2685+471del	ENSP00000478255.1:n.2685+452_2685+471del
NM_000927.4:c.2685+452_2685+471del	NP_000918.2:n.2685+452_2685+471del
NM_001348944.1:c.2685+452_2685+471del	NP_001335873.1:n.2685+452_2685+471del
NM_001348945.1:c.2895+452_2895+471del	NP_001335874.1:n.2895+452_2895+471del
NM_001348946.1:c.2685+452_2685+471del	NP_001335875.1:n.2685+452_2685+471del
NM_001348946.2:c.2685+452_2685+471del MANE Select	NP_001335875.1:n.2685+452_2685+471del
NM_000927.5:c.2685+452_2685+471del	NP_000918.2:n.2685+452_2685+471del
NM_001348944.2:c.2685+452_2685+471del	NP_001335873.1:n.2685+452_2685+471del
NM_001348945.2:c.2895+452_2895+471del	NP_001335874.1:n.2895+452_2895+471del