Canonical Allele Identifier: CA2573051633
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1180748
ClinVar RCV Id: RCV001814477
dbSNP Id: rs2101078317
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062683_94062721del , CM000663.2:g.94062683_94062721del GRCh38
NC_000001.10:g.94528239_94528277del , CM000663.1:g.94528239_94528277del GRCh37
NC_000001.9:g.94300827_94300865del NCBI36
NG_009073.1:g.63431_63469del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1795_1833del MANE Select ENSP00000359245.3:p.Glu599_Leu611del
ENST00000649773.1:c.1795_1833del ENSP00000496882.1:p.Glu599_Leu611del
ENST00000370225.3:c.1795_1833del ENSP00000359245.3:p.Glu599_Leu611del
ENST00000536513.5:c.-65+455_-65+493del ENSP00000439707.2:n.-65+455_-65+493del
NM_000350.2:c.1795_1833del NP_000341.2:p.Glu599_Leu611del
NM_000350.3:c.1795_1833del MANE Select NP_000341.2:p.Glu599_Leu611del
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