Canonical Allele Identifier: CA2646649723
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94043325-GCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043328_94043329del , CM000663.2:g.94043328_94043329del GRCh38
NC_000001.10:g.94508884_94508885del , CM000663.1:g.94508884_94508885del GRCh37
NC_000001.9:g.94281472_94281473del NCBI36
NG_009073.1:g.82823_82824del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3190+9_3190+10del MANE Select ENSP00000359245.3:n.3190+9_3190+10del
ENST00000370225.3:c.3190+9_3190+10del ENSP00000359245.3:n.3190+9_3190+10del
ENST00000536513.5:c.-64-3238_-64-3237del ENSP00000439707.2:n.-64-3238_-64-3237del
NM_000350.2:c.3190+9_3190+10del NP_000341.2:n.3190+9_3190+10del
NM_000350.3:c.3190+9_3190+10del MANE Select NP_000341.2:n.3190+9_3190+10del
Search 100 bp 5'
Search 100 bp 3'