Canonical Allele Identifier: CA740499344
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1384370389
gnomAD v4: 1-94041069-ATCT-A
MyVariant Identifiers: chr1:g.94506626_94506628del (hg19) chr1:g.94041070_94041072del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041073_94041075del , CM000663.2:g.94041073_94041075del GRCh38
NC_000001.10:g.94506629_94506631del , CM000663.1:g.94506629_94506631del GRCh37
NC_000001.9:g.94279217_94279219del NCBI36
NG_009073.1:g.85078_85080del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+137_3522+139del MANE Select ENSP00000359245.3:n.3522+137_3522+139del
ENST00000370225.3:c.3522+137_3522+139del ENSP00000359245.3:n.3522+137_3522+139del
ENST00000536513.5:c.-64-983_-64-981del ENSP00000439707.2:n.-64-983_-64-981del
NM_000350.2:c.3522+137_3522+139del NP_000341.2:n.3522+137_3522+139del
NM_000350.3:c.3522+137_3522+139del MANE Select NP_000341.2:n.3522+137_3522+139del
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