Canonical Allele Identifier: CA524387157
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1292382865
gnomAD v2: 1-94533145-C-CT
gnomAD v3: 1-94067589-C-CT
gnomAD v4: 1-94067589-C-CT
MyVariant Identifiers: chr1:g.94533145_94533146insT (hg19) chr1:g.94067589_94067590insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067590dup , CM000663.2:g.94067590dup GRCh38
NC_000001.10:g.94533146dup , CM000663.1:g.94533146dup GRCh37
NC_000001.9:g.94305734dup NCBI36
NG_009073.1:g.58560dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1555-4273dup MANE Select ENSP00000359245.3:n.1555-4273dup
ENST00000649773.1:c.1555-4273dup ENSP00000496882.1:n.1555-4273dup
ENST00000370225.3:c.1555-4273dup ENSP00000359245.3:n.1555-4273dup
NM_000350.2:c.1555-4273dup NP_000341.2:n.1555-4273dup
NM_000350.3:c.1555-4273dup MANE Select NP_000341.2:n.1555-4273dup
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Search 100 bp 3'