Canonical Allele Identifier: CA2646646365
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94008206-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008209del , CM000663.2:g.94008209del GRCh38
NC_000001.10:g.94473765del , CM000663.1:g.94473765del GRCh37
NC_000001.9:g.94246353del NCBI36
NG_009073.1:g.117943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5898+28del MANE Select ENSP00000359245.3:n.5898+28del
ENST00000370225.3:c.5898+28del ENSP00000359245.3:n.5898+28del
ENST00000465352.1:n.314+28del
ENST00000536513.5:c.2274+28del ENSP00000439707.2:n.2274+28del
NM_000350.2:c.5898+28del NP_000341.2:n.5898+28del
NM_000350.3:c.5898+28del MANE Select NP_000341.2:n.5898+28del
Search 100 bp 5'
Search 100 bp 3'