Canonical Allele Identifier: CA227351
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99416
ClinVar RCV Id: RCV000085771
dbSNP Id: rs62642059
MyVariant Identifiers: chr1:g.94473801del (hg19) chr1:g.94008245del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008245del , CM000663.2:g.94008245del GRCh38
NC_000001.10:g.94473801del , CM000663.1:g.94473801del GRCh37
NC_000001.9:g.94246389del NCBI36
NG_009073.1:g.117905del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5888del MANE Select ENSP00000359245.3:p.Arg1963ProfsTer11
ENST00000370225.3:c.5888del ENSP00000359245.3:p.Arg1963ProfsTer11
ENST00000465352.1:n.304del
ENST00000536513.5:c.2264del ENSP00000439707.2:p.Arg755ProfsTer11
NM_000350.2:c.5888del NP_000341.2:p.Arg1963ProfsTer11
NM_000350.3:c.5888del MANE Select NP_000341.2:p.Arg1963ProfsTer11
Search 100 bp 5'
Search 100 bp 3'