Canonical Allele Identifier: CA227437
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99485
ClinVar RCV Id: RCV000085846
dbSNP Id: rs281865383
gnomAD v4: 1-93997880-G-GT
MyVariant Identifiers: chr1:g.94463436_94463437insT (hg19) chr1:g.93997880_93997881insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997881dup , CM000663.2:g.93997881dup GRCh38
NC_000001.10:g.94463437dup , CM000663.1:g.94463437dup GRCh37
NC_000001.9:g.94236025dup NCBI36
NG_009073.1:g.128269dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6709dup MANE Select ENSP00000359245.3:p.Thr2237AsnfsTer14
ENST00000370225.3:c.6709dup ENSP00000359245.3:p.Thr2237AsnfsTer14
ENST00000536513.5:c.3085dup ENSP00000439707.2:p.Thr1029AsnfsTer14
NM_000350.2:c.6709dup NP_000341.2:p.Thr2237AsnfsTer14
NM_000350.3:c.6709dup MANE Select NP_000341.2:p.Thr2237AsnfsTer14
Search 100 bp 5'
Search 100 bp 3'