Canonical Allele Identifier: CA524697456
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2834522
ClinVar RCV Id: RCV003694531
dbSNP Id: rs1557768952
gnomAD v2: 1-94487454-TC-T
gnomAD v4: 1-94021898-TC-T
MyVariant Identifiers: chr1:g.94487455del (hg19) chr1:g.94021899del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021903del , CM000663.2:g.94021903del GRCh38
NC_000001.10:g.94487459del , CM000663.1:g.94487459del GRCh37
NC_000001.9:g.94260047del NCBI36
NG_009073.1:g.104251del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4720del MANE Select ENSP00000359245.3:p.Glu1574LysfsTer7
ENST00000370225.3:c.4720del ENSP00000359245.3:p.Glu1574LysfsTer7
ENST00000460514.1:n.214del
ENST00000536513.5:c.1096del ENSP00000439707.2:p.Glu366LysfsTer7
NM_000350.2:c.4720del NP_000341.2:p.Glu1574LysfsTer7
NM_000350.3:c.4720del MANE Select NP_000341.2:p.Glu1574LysfsTer7
Search 100 bp 5'
Search 100 bp 3'