Canonical Allele Identifier: CA916082047
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 860601
ClinVar RCV Id: RCV001066937
dbSNP Id: rs1659426203
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007653_94007673del , CM000663.2:g.94007653_94007673del GRCh38
NC_000001.10:g.94473209_94473229del , CM000663.1:g.94473209_94473229del GRCh37
NC_000001.9:g.94245797_94245817del NCBI36
NG_009073.1:g.118481_118501del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5970_5990del MANE Select ENSP00000359245.3:p.Val1991_Thr1997del
ENST00000370225.3:c.5970_5990del ENSP00000359245.3:p.Val1991_Thr1997del
ENST00000465352.1:n.386_406del
ENST00000484388.1:n.84_104del
ENST00000536513.5:c.2346_2366del ENSP00000439707.2:p.Val783_Thr789del
NM_000350.2:c.5970_5990del NP_000341.2:p.Val1991_Thr1997del
NM_000350.3:c.5970_5990del MANE Select NP_000341.2:p.Val1991_Thr1997del
Search 100 bp 5'
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