Canonical Allele Identifier: CA2697552499
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2705738
ClinVar RCV Id: RCV003575586
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021945_94021950del , CM000663.2:g.94021945_94021950del GRCh38
NC_000001.10:g.94487501_94487506del , CM000663.1:g.94487501_94487506del GRCh37
NC_000001.9:g.94260089_94260094del NCBI36
NG_009073.1:g.104200_104205del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4669_4674del MANE Select ENSP00000359245.3:p.Tyr1557_Gly1558del
ENST00000370225.3:c.4669_4674del ENSP00000359245.3:p.Tyr1557_Gly1558del
ENST00000460514.1:n.163_168del
ENST00000536513.5:c.1045_1050del ENSP00000439707.2:p.Tyr349_Gly350del
NM_000350.2:c.4669_4674del NP_000341.2:p.Tyr1557_Gly1558del
NM_000350.3:c.4669_4674del MANE Select NP_000341.2:p.Tyr1557_Gly1558del
Search 100 bp 5'
Search 100 bp 3'