Canonical Allele Identifier: CA958167
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2062281
ClinVar RCV Id: RCV002923541
dbSNP Id: rs763016325
ExAC: 1:94512657 GA / G
gnomAD v2: 1-94512657-GA-G
gnomAD v4: 1-94047101-GA-G
MyVariant Identifiers: chr1:g.94512658del (hg19) chr1:g.94047102del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047109del , CM000663.2:g.94047109del GRCh38
NC_000001.10:g.94512665del , CM000663.1:g.94512665del GRCh37
NC_000001.9:g.94285253del NCBI36
NG_009073.1:g.79048del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-9del MANE Select ENSP00000359245.3:n.2744-9del
ENST00000649773.1:c.2522-9del ENSP00000496882.1:n.2522-9del
ENST00000370225.3:c.2744-9del ENSP00000359245.3:n.2744-9del
ENST00000536513.5:c.-64-7013del ENSP00000439707.2:n.-64-7013del
NM_000350.2:c.2744-9del NP_000341.2:n.2744-9del
NM_000350.3:c.2744-9del MANE Select NP_000341.2:n.2744-9del
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