Canonical Allele Identifier: CA2646646014
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94007556-GGTC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007557_94007559del , CM000663.2:g.94007557_94007559del GRCh38
NC_000001.10:g.94473113_94473115del , CM000663.1:g.94473113_94473115del GRCh37
NC_000001.9:g.94245701_94245703del NCBI36
NG_009073.1:g.118591_118593del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6005+75_6005+77del MANE Select ENSP00000359245.3:n.6005+75_6005+77del
ENST00000370225.3:c.6005+75_6005+77del ENSP00000359245.3:n.6005+75_6005+77del
ENST00000465352.1:n.421+75_421+77del
ENST00000484388.1:n.119+75_119+77del
ENST00000536513.5:c.2381+75_2381+77del ENSP00000439707.2:n.2381+75_2381+77del
NM_000350.2:c.6005+75_6005+77del NP_000341.2:n.6005+75_6005+77del
NM_000350.3:c.6005+75_6005+77del MANE Select NP_000341.2:n.6005+75_6005+77del
Search 100 bp 5'
Search 100 bp 3'