Canonical Allele Identifier: CA1181422690

Gene: ABCA4

Linked Data

• dbSNP Id: rs1660709829

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047156dup , CM000663.2:g.94047156dup	GRCh38
NC_000001.10:g.94512712dup , CM000663.1:g.94512712dup	GRCh37
NC_000001.9:g.94285300dup	NCBI36
NG_009073.1:g.78994dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-63dup MANE Select	ENSP00000359245.3:n.2744-63dup
ENST00000649773.1:c.2522-63dup	ENSP00000496882.1:n.2522-63dup
ENST00000370225.3:c.2744-63dup	ENSP00000359245.3:n.2744-63dup
ENST00000536513.5:c.-64-7067dup	ENSP00000439707.2:n.-64-7067dup
NM_000350.2:c.2744-63dup	NP_000341.2:n.2744-63dup
NM_000350.3:c.2744-63dup MANE Select	NP_000341.2:n.2744-63dup