Canonical Allele Identifier: CA26846205
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs765335819
gnomAD v4: 1-94060410-AG-A
MyVariant Identifiers: chr1:g.94525967del (hg19) chr1:g.94060411del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060413del , CM000663.2:g.94060413del GRCh38
NC_000001.10:g.94525969del , CM000663.1:g.94525969del GRCh37
NC_000001.9:g.94298557del NCBI36
NG_009073.1:g.65739del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2160+126del MANE Select ENSP00000359245.3:n.2160+126del
ENST00000649773.1:c.2160+126del ENSP00000496882.1:n.2160+126del
ENST00000370225.3:c.2160+126del ENSP00000359245.3:n.2160+126del
ENST00000472033.1:n.280+126del
ENST00000536513.5:c.-65+2763del ENSP00000439707.2:n.-65+2763del
NM_000350.2:c.2160+126del NP_000341.2:n.2160+126del
NM_000350.3:c.2160+126del MANE Select NP_000341.2:n.2160+126del
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