Canonical Allele Identifier: CA524384420
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1553190612
gnomAD v2: 1-94508473-CG-C
gnomAD v4: 1-94042917-CG-C
MyVariant Identifiers: chr1:g.94508474del (hg19) chr1:g.94042918del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042920del , CM000663.2:g.94042920del GRCh38
NC_000001.10:g.94508476del , CM000663.1:g.94508476del GRCh37
NC_000001.9:g.94281064del NCBI36
NG_009073.1:g.83232del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3191-20del MANE Select ENSP00000359245.3:n.3191-20del
ENST00000370225.3:c.3191-20del ENSP00000359245.3:n.3191-20del
ENST00000536513.5:c.-64-2829del ENSP00000439707.2:n.-64-2829del
NM_000350.2:c.3191-20del NP_000341.2:n.3191-20del
NM_000350.3:c.3191-20del MANE Select NP_000341.2:n.3191-20del
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