Canonical Allele Identifier: CA2646650180

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94047158-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047159dup , CM000663.2:g.94047159dup	GRCh38
NC_000001.10:g.94512715dup , CM000663.1:g.94512715dup	GRCh37
NC_000001.9:g.94285303dup	NCBI36
NG_009073.1:g.78991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-66dup MANE Select	ENSP00000359245.3:n.2744-66dup
ENST00000649773.1:c.2522-66dup	ENSP00000496882.1:n.2522-66dup
ENST00000370225.3:c.2744-66dup	ENSP00000359245.3:n.2744-66dup
ENST00000536513.5:c.-64-7070dup	ENSP00000439707.2:n.-64-7070dup
NM_000350.2:c.2744-66dup	NP_000341.2:n.2744-66dup
NM_000350.3:c.2744-66dup MANE Select	NP_000341.2:n.2744-66dup