Canonical Allele Identifier: CA227030
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99158
ClinVar RCV Id: RCV000085505
dbSNP Id: rs281865389
MyVariant Identifiers: chr1:g.94512687del (hg19) chr1:g.94047131del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047131del , CM000663.2:g.94047131del GRCh38
NC_000001.10:g.94512687del , CM000663.1:g.94512687del GRCh37
NC_000001.9:g.94285275del NCBI36
NG_009073.1:g.79019del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-38del MANE Select ENSP00000359245.3:n.2744-38del
ENST00000649773.1:c.2522-38del ENSP00000496882.1:n.2522-38del
ENST00000370225.3:c.2744-38del ENSP00000359245.3:n.2744-38del
ENST00000536513.5:c.-64-7042del ENSP00000439707.2:n.-64-7042del
NM_000350.2:c.2744-38del NP_000341.2:n.2744-38del
NM_000350.3:c.2744-38del MANE Select NP_000341.2:n.2744-38del
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