Canonical Allele Identifier: CA2574438516
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94060852-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060855del , CM000663.2:g.94060855del GRCh38
NC_000001.10:g.94526411del , CM000663.1:g.94526411del GRCh37
NC_000001.9:g.94298999del NCBI36
NG_009073.1:g.65297del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-94del MANE Select ENSP00000359245.3:n.1938-94del
ENST00000649773.1:c.1938-94del ENSP00000496882.1:n.1938-94del
ENST00000370225.3:c.1938-94del ENSP00000359245.3:n.1938-94del
ENST00000472033.1:n.58-94del
ENST00000536513.5:c.-65+2321del ENSP00000439707.2:n.-65+2321del
NM_000350.2:c.1938-94del NP_000341.2:n.1938-94del
NM_000350.3:c.1938-94del MANE Select NP_000341.2:n.1938-94del
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