Canonical Allele Identifier: CA2646647345
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94021375-A-AC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021377dup , CM000663.2:g.94021377dup GRCh38
NC_000001.10:g.94486933dup , CM000663.1:g.94486933dup GRCh37
NC_000001.9:g.94259521dup NCBI36
NG_009073.1:g.104774dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4882dup MANE Select ENSP00000359245.3:p.Val1628GlyfsTer18
ENST00000370225.3:c.4882dup ENSP00000359245.3:p.Val1628GlyfsTer18
ENST00000460514.1:n.376dup
ENST00000536513.5:c.1258dup ENSP00000439707.2:p.Val420GlyfsTer18
NM_000350.2:c.4882dup NP_000341.2:p.Val1628GlyfsTer18
NM_000350.3:c.4882dup MANE Select NP_000341.2:p.Val1628GlyfsTer18
Search 100 bp 5'
Search 100 bp 3'