Canonical Allele Identifier: CA2646649453
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94030889-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030891del , CM000663.2:g.94030891del GRCh38
NC_000001.10:g.94496447del , CM000663.1:g.94496447del GRCh37
NC_000001.9:g.94269035del NCBI36
NG_009073.1:g.95260del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4253+106del MANE Select ENSP00000359245.3:n.4253+106del
ENST00000370225.3:c.4253+106del ENSP00000359245.3:n.4253+106del
ENST00000536513.5:c.629+106del ENSP00000439707.2:n.629+106del
NM_000350.2:c.4253+106del NP_000341.2:n.4253+106del
NM_000350.3:c.4253+106del MANE Select NP_000341.2:n.4253+106del
Search 100 bp 5'
Search 100 bp 3'