Canonical Allele Identifier: CA576267768

Gene: ABCB1

Linked Data

• dbSNP Id: rs1425023526
• gnomAD v2: 7-87179629-G-GA
• MyVariant Identifiers: chr7:g.87179629_87179630insA (hg19) ; chr7:g.87550313_87550314insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550320dup , CM000669.2:g.87550320dup	GRCh38
NC_000007.13:g.87179636dup , CM000669.1:g.87179636dup	GRCh37
NC_000007.12:g.87017572dup	NCBI36
NG_011513.1:g.167935dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.1225-18dup	ENSP00000265724.3:n.1225-18dup
ENST00000622132.5:c.1225-18dup MANE Select	ENSP00000478255.1:n.1225-18dup
ENST00000265724.7:c.1225-18dup	ENSP00000265724.3:n.1225-18dup
ENST00000543898.5:c.1033-18dup	ENSP00000444095.1:n.1033-18dup
ENST00000622132.4:c.1225-18dup	ENSP00000478255.1:n.1225-18dup
NM_000927.4:c.1225-18dup	NP_000918.2:n.1225-18dup
NM_001348944.1:c.1225-18dup	NP_001335873.1:n.1225-18dup
NM_001348945.1:c.1435-18dup	NP_001335874.1:n.1435-18dup
NM_001348946.1:c.1225-18dup	NP_001335875.1:n.1225-18dup
NM_001348946.2:c.1225-18dup MANE Select	NP_001335875.1:n.1225-18dup
NM_000927.5:c.1225-18dup	NP_000918.2:n.1225-18dup
NM_001348944.2:c.1225-18dup	NP_001335873.1:n.1225-18dup
NM_001348945.2:c.1435-18dup	NP_001335874.1:n.1435-18dup