Canonical Allele Identifier: CA524384047
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1184956177
gnomAD v2: 1-94497417-G-GT
gnomAD v3: 1-94031861-G-GT
gnomAD v4: 1-94031861-G-GT
MyVariant Identifiers: chr1:g.94497417_94497418insT (hg19) chr1:g.94031861_94031862insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031862dup , CM000663.2:g.94031862dup GRCh38
NC_000001.10:g.94497418dup , CM000663.1:g.94497418dup GRCh37
NC_000001.9:g.94270006dup NCBI36
NG_009073.1:g.94288dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4044dup MANE Select ENSP00000359245.3:p.Gln1349ThrfsTer?
ENST00000370225.3:c.4044dup ENSP00000359245.3:p.Gln1349ThrfsTer?
ENST00000536513.5:c.420dup ENSP00000439707.2:p.Gln141ThrfsTer?
NM_000350.2:c.4044dup NP_000341.2:p.Gln1349ThrfsTer?
NM_000350.3:c.4044dup MANE Select NP_000341.2:p.Gln1349ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'