Canonical Allele Identifier: CA2646647831
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94021350-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021352del , CM000663.2:g.94021352del GRCh38
NC_000001.10:g.94486908del , CM000663.1:g.94486908del GRCh37
NC_000001.9:g.94259496del NCBI36
NG_009073.1:g.104799del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4907del MANE Select ENSP00000359245.3:p.Asn1636ThrfsTer26
ENST00000370225.3:c.4907del ENSP00000359245.3:p.Asn1636ThrfsTer26
ENST00000460514.1:n.401del
ENST00000470771.1:n.17del
ENST00000536513.5:c.1283del ENSP00000439707.2:p.Asn428ThrfsTer26
NM_000350.2:c.4907del NP_000341.2:p.Asn1636ThrfsTer26
NM_000350.3:c.4907del MANE Select NP_000341.2:p.Asn1636ThrfsTer26
Search 100 bp 5'
Search 100 bp 3'