Canonical Allele Identifier: CA227343
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99409
ClinVar RCV Id: RCV000085764
dbSNP Id: rs281865395
MyVariant Identifiers: chr1:g.94473868_94473869insA (hg19) chr1:g.94008312_94008313insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008315dup , CM000663.2:g.94008315dup GRCh38
NC_000001.10:g.94473871dup , CM000663.1:g.94473871dup GRCh37
NC_000001.9:g.94246459dup NCBI36
NG_009073.1:g.117837dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5836-16dup MANE Select ENSP00000359245.3:n.5836-16dup
ENST00000370225.3:c.5836-16dup ENSP00000359245.3:n.5836-16dup
ENST00000465352.1:n.252-16dup
ENST00000536513.5:c.2212-16dup ENSP00000439707.2:n.2212-16dup
NM_000350.2:c.5836-16dup NP_000341.2:n.5836-16dup
NM_000350.3:c.5836-16dup MANE Select NP_000341.2:n.5836-16dup
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