Canonical Allele Identifier: CA575861963

Gene: ABCB1

Linked Data

• dbSNP Id: rs1346552292
• gnomAD v2: 7-87160251-AAAG-A
• gnomAD v3: 7-87530935-AAAG-A
• gnomAD v4: 7-87530935-AAAG-A
• MyVariant Identifiers: chr7:g.87160252_87160254del (hg19) ; chr7:g.87530936_87530938del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87530939_87530941del , CM000669.2:g.87530939_87530941del	GRCh38
NC_000007.13:g.87160255_87160257del , CM000669.1:g.87160255_87160257del	GRCh37
NC_000007.12:g.86998191_86998193del	NCBI36
NG_011513.1:g.187311_187313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2685+356_2685+358del	ENSP00000265724.3:n.2685+356_2685+358del
ENST00000622132.5:c.2685+356_2685+358del MANE Select	ENSP00000478255.1:n.2685+356_2685+358del
ENST00000265724.7:c.2685+356_2685+358del	ENSP00000265724.3:n.2685+356_2685+358del
ENST00000488737.6:n.327+356_327+358del
ENST00000496821.5:n.313+356_313+358del
ENST00000543898.5:c.2493+356_2493+358del	ENSP00000444095.1:n.2493+356_2493+358del
ENST00000622132.4:c.2685+356_2685+358del	ENSP00000478255.1:n.2685+356_2685+358del
NM_000927.4:c.2685+356_2685+358del	NP_000918.2:n.2685+356_2685+358del
NM_001348944.1:c.2685+356_2685+358del	NP_001335873.1:n.2685+356_2685+358del
NM_001348945.1:c.2895+356_2895+358del	NP_001335874.1:n.2895+356_2895+358del
NM_001348946.1:c.2685+356_2685+358del	NP_001335875.1:n.2685+356_2685+358del
NM_001348946.2:c.2685+356_2685+358del MANE Select	NP_001335875.1:n.2685+356_2685+358del
NM_000927.5:c.2685+356_2685+358del	NP_000918.2:n.2685+356_2685+358del
NM_001348944.2:c.2685+356_2685+358del	NP_001335873.1:n.2685+356_2685+358del
NM_001348945.2:c.2895+356_2895+358del	NP_001335874.1:n.2895+356_2895+358del