Canonical Allele Identifier: CA2740090230
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3027893
ClinVar RCV Id: RCV003891147
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046966_94046986del , CM000663.2:g.94046966_94046986del GRCh38
NC_000001.10:g.94512522_94512542del , CM000663.1:g.94512522_94512542del GRCh37
NC_000001.9:g.94285110_94285130del NCBI36
NG_009073.1:g.79170_79190del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2857_2877del MANE Select ENSP00000359245.3:p.Phe953_Thr959del
ENST00000649773.1:c.2635_2655del ENSP00000496882.1:p.Phe879_Thr885del
ENST00000370225.3:c.2857_2877del ENSP00000359245.3:p.Phe953_Thr959del
ENST00000536513.5:c.-64-6891_-64-6871del ENSP00000439707.2:n.-64-6891_-64-6871del
NM_000350.2:c.2857_2877del NP_000341.2:p.Phe953_Thr959del
NM_000350.3:c.2857_2877del MANE Select NP_000341.2:p.Phe953_Thr959del
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Search 100 bp 3'