Canonical Allele Identifier: CA957464
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2832149
ClinVar RCV Id: RCV003689362
dbSNP Id: rs753994194
ExAC: 1:94487283 T / TAA
gnomAD v2: 1-94487283-T-TAA
gnomAD v4: 1-94021727-T-TAA
MyVariant Identifiers: chr1:g.94487287delinsAAC (hg19) chr1:g.94487283_94487284insAA (hg19) chr1:g.94021731delinsAAC (hg38) chr1:g.94021727_94021728insAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021729_94021730dup , CM000663.2:g.94021729_94021730dup GRCh38
NC_000001.10:g.94487285_94487286dup , CM000663.1:g.94487285_94487286dup GRCh37
NC_000001.9:g.94259873_94259874dup NCBI36
NG_009073.1:g.104421_104422dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4774-15_4774-14dup MANE Select ENSP00000359245.3:n.4774-15_4774-14dup
ENST00000370225.3:c.4774-15_4774-14dup ENSP00000359245.3:n.4774-15_4774-14dup
ENST00000460514.1:n.268-15_268-14dup
ENST00000536513.5:c.1150-15_1150-14dup ENSP00000439707.2:n.1150-15_1150-14dup
NM_000350.2:c.4774-15_4774-14dup NP_000341.2:n.4774-15_4774-14dup
NM_000350.3:c.4774-15_4774-14dup MANE Select NP_000341.2:n.4774-15_4774-14dup
Search 100 bp 5'
Search 100 bp 3'