Canonical Allele Identifier: CA1181414953

Gene: ABCA4

Linked Data

• dbSNP Id: rs1660170873

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030538_94030560dup , CM000663.2:g.94030538_94030560dup	GRCh38
NC_000001.10:g.94496094_94496116dup , CM000663.1:g.94496094_94496116dup	GRCh37
NC_000001.9:g.94268682_94268704dup	NCBI36
NG_009073.1:g.95590_95612dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-34_4254-12dup MANE Select	ENSP00000359245.3:n.4254-34_4254-12dup
ENST00000370225.3:c.4254-34_4254-12dup	ENSP00000359245.3:n.4254-34_4254-12dup
ENST00000536513.5:c.630-34_630-12dup	ENSP00000439707.2:n.630-34_630-12dup
NM_000350.2:c.4254-34_4254-12dup	NP_000341.2:n.4254-34_4254-12dup
NM_000350.3:c.4254-34_4254-12dup MANE Select	NP_000341.2:n.4254-34_4254-12dup