Canonical Allele Identifier: CA575859940

Gene: ABCB1

Linked Data

• dbSNP Id: rs1488177356
• gnomAD v2: 7-87141228-AG-A
• gnomAD v3: 7-87511912-AG-A
• gnomAD v4: 7-87511912-AG-A
• MyVariant Identifiers: chr7:g.87141229del (hg19) ; chr7:g.87511913del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87511916del , CM000669.2:g.87511916del	GRCh38
NC_000007.13:g.87141232del , CM000669.1:g.87141232del	GRCh37
NC_000007.12:g.86979168del	NCBI36
NG_011513.1:g.206336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3283-2432del	ENSP00000265724.3:n.3283-2432del
ENST00000622132.5:c.3283-2432del MANE Select	ENSP00000478255.1:n.3283-2432del
ENST00000265724.7:c.3283-2432del	ENSP00000265724.3:n.3283-2432del
ENST00000475929.5:n.439-2432del
ENST00000488737.6:n.925-2432del
ENST00000543898.5:c.3091-2432del	ENSP00000444095.1:n.3091-2432del
ENST00000622132.4:c.3283-2432del	ENSP00000478255.1:n.3283-2432del
NM_000927.4:c.3283-2432del	NP_000918.2:n.3283-2432del
NM_001348944.1:c.3283-2432del	NP_001335873.1:n.3283-2432del
NM_001348945.1:c.3493-2432del	NP_001335874.1:n.3493-2432del
NM_001348946.1:c.3283-2432del	NP_001335875.1:n.3283-2432del
NM_001348946.2:c.3283-2432del MANE Select	NP_001335875.1:n.3283-2432del
NM_000927.5:c.3283-2432del	NP_000918.2:n.3283-2432del
NM_001348944.2:c.3283-2432del	NP_001335873.1:n.3283-2432del
NM_001348945.2:c.3493-2432del	NP_001335874.1:n.3493-2432del