Canonical Allele Identifier: CA4328100

Gene: ABCB1

Linked Data

• dbSNP Id: rs754104249
• ExAC: 7:87170796 T / TA
• gnomAD v2: 7-87170796-T-TA
• gnomAD v3: 7-87541480-T-TA
• gnomAD v4: 7-87541480-T-TA
• MyVariant Identifiers: chr7:g.87170796_87170797insA (hg19) ; chr7:g.87541480_87541481insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87541483dup , CM000669.2:g.87541483dup	GRCh38
NC_000007.13:g.87170799dup , CM000669.1:g.87170799dup	GRCh37
NC_000007.12:g.87008735dup	NCBI36
NG_011513.1:g.176768dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2212-17dup	ENSP00000265724.3:n.2212-17dup
ENST00000622132.5:c.2212-17dup MANE Select	ENSP00000478255.1:n.2212-17dup
ENST00000265724.7:c.2212-17dup	ENSP00000265724.3:n.2212-17dup
ENST00000543898.5:c.2020-17dup	ENSP00000444095.1:n.2020-17dup
ENST00000622132.4:c.2212-17dup	ENSP00000478255.1:n.2212-17dup
NM_000927.4:c.2212-17dup	NP_000918.2:n.2212-17dup
NM_001348944.1:c.2212-17dup	NP_001335873.1:n.2212-17dup
NM_001348945.1:c.2422-17dup	NP_001335874.1:n.2422-17dup
NM_001348946.1:c.2212-17dup	NP_001335875.1:n.2212-17dup
NM_001348946.2:c.2212-17dup MANE Select	NP_001335875.1:n.2212-17dup
NM_000927.5:c.2212-17dup	NP_000918.2:n.2212-17dup
NM_001348944.2:c.2212-17dup	NP_001335873.1:n.2212-17dup
NM_001348945.2:c.2422-17dup	NP_001335874.1:n.2422-17dup