Canonical Allele Identifier: CA1139656184
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 942605
ClinVar RCV Id: RCV001212625
dbSNP Id: rs1659160781
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001071del , CM000663.2:g.94001071del GRCh38
NC_000001.10:g.94466627del , CM000663.1:g.94466627del GRCh37
NC_000001.9:g.94239215del NCBI36
NG_009073.1:g.125079del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6317del MANE Select ENSP00000359245.3:p.Arg2106ProfsTer9
ENST00000370225.3:c.6317del ENSP00000359245.3:p.Arg2106ProfsTer9
ENST00000536513.5:c.2693del ENSP00000439707.2:p.Arg898ProfsTer9
NM_000350.2:c.6317del NP_000341.2:p.Arg2106ProfsTer9
NM_000350.3:c.6317del MANE Select NP_000341.2:p.Arg2106ProfsTer9
Search 100 bp 5'
Search 100 bp 3'