Canonical Allele Identifier: CA524383991
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1480538784
gnomAD v2: 1-94496122-C-CGG
gnomAD v3: 1-94030566-C-CGG
gnomAD v4: 1-94030566-C-CGG
MyVariant Identifiers: chr1:g.94496122_94496123insGG (hg19) chr1:g.94030566_94030567insGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030567_94030568insGG , CM000663.2:g.94030567_94030568insGG GRCh38
NC_000001.10:g.94496123_94496124insGG , CM000663.1:g.94496123_94496124insGG GRCh37
NC_000001.9:g.94268711_94268712insGG NCBI36
NG_009073.1:g.95583_95584insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4254-41_4254-40insCC MANE Select ENSP00000359245.3:n.4254-41_4254-40insCC
ENST00000370225.3:c.4254-41_4254-40insCC ENSP00000359245.3:n.4254-41_4254-40insCC
ENST00000536513.5:c.630-41_630-40insCC ENSP00000439707.2:n.630-41_630-40insCC
NM_000350.2:c.4254-41_4254-40insCC NP_000341.2:n.4254-41_4254-40insCC
NM_000350.3:c.4254-41_4254-40insCC MANE Select NP_000341.2:n.4254-41_4254-40insCC
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