Canonical Allele Identifier: CA2580063350
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2202798
ClinVar RCV Id: RCV002648174

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047055dup , CM000663.2:g.94047055dup GRCh38
NC_000001.10:g.94512611dup , CM000663.1:g.94512611dup GRCh37
NC_000001.9:g.94285199dup NCBI36
NG_009073.1:g.79098dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2785dup MANE Select ENSP00000359245.3:p.Val929GlyfsTer11
ENST00000649773.1:c.2563dup ENSP00000496882.1:p.Val855GlyfsTer11
ENST00000370225.3:c.2785dup ENSP00000359245.3:p.Val929GlyfsTer11
ENST00000536513.5:c.-64-6963dup ENSP00000439707.2:n.-64-6963dup
NM_000350.2:c.2785dup NP_000341.2:p.Val929GlyfsTer11
NM_000350.3:c.2785dup MANE Select NP_000341.2:p.Val929GlyfsTer11