Canonical Allele Identifier: CA2646650160

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 2834549
• ClinVar RCV Id: RCV003694543
• gnomAD v4: 1-94047099-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047101dup , CM000663.2:g.94047101dup	GRCh38
NC_000001.10:g.94512657dup , CM000663.1:g.94512657dup	GRCh37
NC_000001.9:g.94285245dup	NCBI36
NG_009073.1:g.79050dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-7dup MANE Select	ENSP00000359245.3:n.2744-7dup
ENST00000649773.1:c.2522-7dup	ENSP00000496882.1:n.2522-7dup
ENST00000370225.3:c.2744-7dup	ENSP00000359245.3:n.2744-7dup
ENST00000536513.5:c.-64-7011dup	ENSP00000439707.2:n.-64-7011dup
NM_000350.2:c.2744-7dup	NP_000341.2:n.2744-7dup
NM_000350.3:c.2744-7dup MANE Select	NP_000341.2:n.2744-7dup