Canonical Allele Identifier: CA2739272657
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2844543
ClinVar RCV Id: RCV003716878
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997885dup , CM000663.2:g.93997885dup GRCh38
NC_000001.10:g.94463441dup , CM000663.1:g.94463441dup GRCh37
NC_000001.9:g.94236029dup NCBI36
NG_009073.1:g.128265dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6705dup MANE Select ENSP00000359245.3:p.Val2236SerfsTer15
ENST00000370225.3:c.6705dup ENSP00000359245.3:p.Val2236SerfsTer15
ENST00000536513.5:c.3081dup ENSP00000439707.2:p.Val1028SerfsTer15
NM_000350.2:c.6705dup NP_000341.2:p.Val2236SerfsTer15
NM_000350.3:c.6705dup MANE Select NP_000341.2:p.Val2236SerfsTer15
Search 100 bp 5'
Search 100 bp 3'