Canonical Allele Identifier: CA2646647347
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94021398-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021400del , CM000663.2:g.94021400del GRCh38
NC_000001.10:g.94486956del , CM000663.1:g.94486956del GRCh37
NC_000001.9:g.94259544del NCBI36
NG_009073.1:g.104751del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4859del MANE Select ENSP00000359245.3:p.Asn1620IlefsTer?
ENST00000370225.3:c.4859del ENSP00000359245.3:p.Asn1620IlefsTer?
ENST00000460514.1:n.353del
ENST00000536513.5:c.1235del ENSP00000439707.2:p.Asn412IlefsTer?
NM_000350.2:c.4859del NP_000341.2:p.Asn1620IlefsTer?
NM_000350.3:c.4859del MANE Select NP_000341.2:p.Asn1620IlefsTer?
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