Canonical Allele Identifier: CA10602439
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 236099
ClinVar RCV Id: RCV000408456 RCV000449544 RCV001543589
dbSNP Id: rs886044735
MyVariant Identifiers: chr1:g.94508989del (hg19) chr1:g.94043433del (hg38)
PubMed: PMID:28118664
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043435del , CM000663.2:g.94043435del GRCh38
NC_000001.10:g.94508991del , CM000663.1:g.94508991del GRCh37
NC_000001.9:g.94281579del NCBI36
NG_009073.1:g.82717del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3093del MANE Select ENSP00000359245.3:p.Gly1032GlufsTer?
ENST00000370225.3:c.3093del ENSP00000359245.3:p.Gly1032GlufsTer?
ENST00000536513.5:c.-64-3344del ENSP00000439707.2:n.-64-3344del
NM_000350.2:c.3093del NP_000341.2:p.Gly1032GlufsTer?
NM_000350.3:c.3093del MANE Select NP_000341.2:p.Gly1032GlufsTer?
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