Canonical Allele Identifier: CA576122837

Gene: ABCB1

Linked Data

• dbSNP Id: rs1203241350
• gnomAD v2: 7-87213032-CTG-C
• gnomAD v3: 7-87583716-CTG-C
• gnomAD v4: 7-87583716-CTG-C
• MyVariant Identifiers: chr7:g.87213033_87213034del (hg19) ; chr7:g.87583717_87583718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87583722_87583723del , CM000669.2:g.87583722_87583723del	GRCh38
NC_000007.13:g.87213038_87213039del , CM000669.1:g.87213038_87213039del	GRCh37
NC_000007.12:g.87050974_87050975del	NCBI36
NG_011513.1:g.134531_134532del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265724.8:c.286+1794_286+1795del	ENSP00000265724.3:n.286+1794_286+1795del
ENST00000622132.5:c.286+1794_286+1795del MANE Select	ENSP00000478255.1:n.286+1794_286+1795del
ENST00000265724.7:c.286+1794_286+1795del	ENSP00000265724.3:n.286+1794_286+1795del
ENST00000543898.5:c.286+1794_286+1795del	ENSP00000444095.1:n.286+1794_286+1795del
ENST00000622132.4:c.286+1794_286+1795del	ENSP00000478255.1:n.286+1794_286+1795del
NM_000927.4:c.286+1794_286+1795del	NP_000918.2:n.286+1794_286+1795del
NM_001348944.1:c.286+1794_286+1795del	NP_001335873.1:n.286+1794_286+1795del
NM_001348945.1:c.496+1794_496+1795del	NP_001335874.1:n.496+1794_496+1795del
NM_001348946.1:c.286+1794_286+1795del	NP_001335875.1:n.286+1794_286+1795del
NM_001348946.2:c.286+1794_286+1795del MANE Select	NP_001335875.1:n.286+1794_286+1795del
NM_000927.5:c.286+1794_286+1795del	NP_000918.2:n.286+1794_286+1795del
NM_001348944.2:c.286+1794_286+1795del	NP_001335873.1:n.286+1794_286+1795del
NM_001348945.2:c.496+1794_496+1795del	NP_001335874.1:n.496+1794_496+1795del