Canonical Allele Identifier: CA456356265

Gene: ABCB1

Linked Data

• dbSNP Id: rs1217650542
• gnomAD v2: 7-87160154-C-CAAGA
• gnomAD v3: 7-87530838-C-CAAGA
• gnomAD v4: 7-87530838-C-CAAGA
• MyVariant Identifiers: chr7:g.87160163_87160164insAGAA (hg19) ; chr7:g.87160158_87160159insAAGA (hg19) ; chr7:g.87160154_87160155insAAGA (hg19) ; chr7:g.87530842_87530843insAAGA (hg38) ; chr7:g.87530838_87530839insAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530873_87530876dup , CM000669.2:g.87530873_87530876dup	GRCh38
NC_000007.13:g.87160189_87160192dup , CM000669.1:g.87160189_87160192dup	GRCh37
NC_000007.12:g.86998125_86998128dup	NCBI36
NG_011513.1:g.187407_187410dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+452_2685+455dup	ENSP00000265724.3:n.2685+452_2685+455dup
ENST00000622132.5:c.2685+452_2685+455dup MANE Select	ENSP00000478255.1:n.2685+452_2685+455dup
ENST00000265724.7:c.2685+452_2685+455dup	ENSP00000265724.3:n.2685+452_2685+455dup
ENST00000488737.6:n.327+452_327+455dup
ENST00000496821.5:n.313+452_313+455dup
ENST00000543898.5:c.2493+452_2493+455dup	ENSP00000444095.1:n.2493+452_2493+455dup
ENST00000622132.4:c.2685+452_2685+455dup	ENSP00000478255.1:n.2685+452_2685+455dup
NM_000927.4:c.2685+452_2685+455dup	NP_000918.2:n.2685+452_2685+455dup
NM_001348944.1:c.2685+452_2685+455dup	NP_001335873.1:n.2685+452_2685+455dup
NM_001348945.1:c.2895+452_2895+455dup	NP_001335874.1:n.2895+452_2895+455dup
NM_001348946.1:c.2685+452_2685+455dup	NP_001335875.1:n.2685+452_2685+455dup
NM_001348946.2:c.2685+452_2685+455dup MANE Select	NP_001335875.1:n.2685+452_2685+455dup
NM_000927.5:c.2685+452_2685+455dup	NP_000918.2:n.2685+452_2685+455dup
NM_001348944.2:c.2685+452_2685+455dup	NP_001335873.1:n.2685+452_2685+455dup
NM_001348945.2:c.2895+452_2895+455dup	NP_001335874.1:n.2895+452_2895+455dup