Canonical Allele Identifier: CA2646650059
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94043568-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043571del , CM000663.2:g.94043571del GRCh38
NC_000001.10:g.94509127del , CM000663.1:g.94509127del GRCh37
NC_000001.9:g.94281715del NCBI36
NG_009073.1:g.82581del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3051-94del MANE Select ENSP00000359245.3:n.3051-94del
ENST00000370225.3:c.3051-94del ENSP00000359245.3:n.3051-94del
ENST00000536513.5:c.-64-3480del ENSP00000439707.2:n.-64-3480del
NM_000350.2:c.3051-94del NP_000341.2:n.3051-94del
NM_000350.3:c.3051-94del MANE Select NP_000341.2:n.3051-94del
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