Canonical Allele Identifier: CA1004570391
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660980610
gnomAD v3: 1-94056478-AC-A
gnomAD v4: 1-94056478-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056479del , CM000663.2:g.94056479del GRCh38
NC_000001.10:g.94522035del , CM000663.1:g.94522035del GRCh37
NC_000001.9:g.94294623del NCBI36
NG_009073.1:g.69671del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+122del MANE Select ENSP00000359245.3:n.2382+122del
ENST00000649773.1:c.2161-1164del ENSP00000496882.1:n.2161-1164del
ENST00000370225.3:c.2382+122del ENSP00000359245.3:n.2382+122del
ENST00000536513.5:c.-65+6695del ENSP00000439707.2:n.-65+6695del
NM_000350.2:c.2382+122del NP_000341.2:n.2382+122del
NM_000350.3:c.2382+122del MANE Select NP_000341.2:n.2382+122del
Search 100 bp 5'
Search 100 bp 3'