Canonical Allele Identifier: CA575861952

Gene: ABCB1

Linked Data

• dbSNP Id: rs1563037392
• gnomAD v2: 7-87160162-A-AAGAAAGC
• gnomAD v3: 7-87530846-A-AAGAAAGC
• gnomAD v4: 7-87530846-A-AAGAAAGC
• MyVariant Identifiers: chr7:g.87160162_87160163insAGAAAGC (hg19) ; chr7:g.87530846_87530847insAGAAAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530847_87530848insGAAAGCA , CM000669.2:g.87530847_87530848insGAAAGCA	GRCh38
NC_000007.13:g.87160163_87160164insGAAAGCA , CM000669.1:g.87160163_87160164insGAAAGCA	GRCh37
NC_000007.12:g.86998099_86998100insGAAAGCA	NCBI36
NG_011513.1:g.187402_187403insGCTTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+447_2685+448insGCTTTCT	ENSP00000265724.3:n.2685+447_2685+448insGCTTTCT
ENST00000622132.5:c.2685+447_2685+448insGCTTTCT MANE Select	ENSP00000478255.1:n.2685+447_2685+448insGCTTTCT
ENST00000265724.7:c.2685+447_2685+448insGCTTTCT	ENSP00000265724.3:n.2685+447_2685+448insGCTTTCT
ENST00000488737.6:n.327+447_327+448insGCTTTCT
ENST00000496821.5:n.313+447_313+448insGCTTTCT
ENST00000543898.5:c.2493+447_2493+448insGCTTTCT	ENSP00000444095.1:n.2493+447_2493+448insGCTTTCT
ENST00000622132.4:c.2685+447_2685+448insGCTTTCT	ENSP00000478255.1:n.2685+447_2685+448insGCTTTCT
NM_000927.4:c.2685+447_2685+448insGCTTTCT	NP_000918.2:n.2685+447_2685+448insGCTTTCT
NM_001348944.1:c.2685+447_2685+448insGCTTTCT	NP_001335873.1:n.2685+447_2685+448insGCTTTCT
NM_001348945.1:c.2895+447_2895+448insGCTTTCT	NP_001335874.1:n.2895+447_2895+448insGCTTTCT
NM_001348946.1:c.2685+447_2685+448insGCTTTCT	NP_001335875.1:n.2685+447_2685+448insGCTTTCT
NM_001348946.2:c.2685+447_2685+448insGCTTTCT MANE Select	NP_001335875.1:n.2685+447_2685+448insGCTTTCT
NM_000927.5:c.2685+447_2685+448insGCTTTCT	NP_000918.2:n.2685+447_2685+448insGCTTTCT
NM_001348944.2:c.2685+447_2685+448insGCTTTCT	NP_001335873.1:n.2685+447_2685+448insGCTTTCT
NM_001348945.2:c.2895+447_2895+448insGCTTTCT	NP_001335874.1:n.2895+447_2895+448insGCTTTCT