Canonical Allele Identifier: CA162113440

Gene: ABCB1

Linked Data

• dbSNP Id: rs988423749
• gnomAD v2: 7-87166088-G-GTGTT
• gnomAD v3: 7-87536772-G-GTGTT
• gnomAD v4: 7-87536772-G-GTGTT
• MyVariant Identifiers: chr7:g.87166088_87166089insTGTT (hg19) ; chr7:g.87536772_87536773insTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87536773_87536776dup , CM000669.2:g.87536773_87536776dup	GRCh38
NC_000007.13:g.87166089_87166092dup , CM000669.1:g.87166089_87166092dup	GRCh37
NC_000007.12:g.87004025_87004028dup	NCBI36
NG_011513.1:g.181473_181476dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2398-235_2398-232dup	ENSP00000265724.3:n.2398-235_2398-232dup
ENST00000622132.5:c.2398-235_2398-232dup MANE Select	ENSP00000478255.1:n.2398-235_2398-232dup
ENST00000265724.7:c.2398-235_2398-232dup	ENSP00000265724.3:n.2398-235_2398-232dup
ENST00000496821.5:n.26-235_26-232dup
ENST00000543898.5:c.2206-235_2206-232dup	ENSP00000444095.1:n.2206-235_2206-232dup
ENST00000622132.4:c.2398-235_2398-232dup	ENSP00000478255.1:n.2398-235_2398-232dup
NM_000927.4:c.2398-235_2398-232dup	NP_000918.2:n.2398-235_2398-232dup
NM_001348944.1:c.2398-235_2398-232dup	NP_001335873.1:n.2398-235_2398-232dup
NM_001348945.1:c.2608-235_2608-232dup	NP_001335874.1:n.2608-235_2608-232dup
NM_001348946.1:c.2398-235_2398-232dup	NP_001335875.1:n.2398-235_2398-232dup
NM_001348946.2:c.2398-235_2398-232dup MANE Select	NP_001335875.1:n.2398-235_2398-232dup
NM_000927.5:c.2398-235_2398-232dup	NP_000918.2:n.2398-235_2398-232dup
NM_001348944.2:c.2398-235_2398-232dup	NP_001335873.1:n.2398-235_2398-232dup
NM_001348945.2:c.2608-235_2608-232dup	NP_001335874.1:n.2608-235_2608-232dup