Canonical Allele Identifier: CA2533580328
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94008328-CTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008329_94008330del , CM000663.2:g.94008329_94008330del GRCh38
NC_000001.10:g.94473885_94473886del , CM000663.1:g.94473885_94473886del GRCh37
NC_000001.9:g.94246473_94246474del NCBI36
NG_009073.1:g.117820_117821del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5836-33_5836-32del MANE Select ENSP00000359245.3:n.5836-33_5836-32del
ENST00000370225.3:c.5836-33_5836-32del ENSP00000359245.3:n.5836-33_5836-32del
ENST00000465352.1:n.252-33_252-32del
ENST00000536513.5:c.2212-33_2212-32del ENSP00000439707.2:n.2212-33_2212-32del
NM_000350.2:c.5836-33_5836-32del NP_000341.2:n.5836-33_5836-32del
NM_000350.3:c.5836-33_5836-32del MANE Select NP_000341.2:n.5836-33_5836-32del
Search 100 bp 5'
Search 100 bp 3'