Canonical Allele Identifier: CA740504725
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1189034258
gnomAD v3: 1-94056441-TC-T
gnomAD v4: 1-94056441-TC-T
MyVariant Identifiers: chr1:g.94521998del (hg19) chr1:g.94056442del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056444del , CM000663.2:g.94056444del GRCh38
NC_000001.10:g.94522000del , CM000663.1:g.94522000del GRCh37
NC_000001.9:g.94294588del NCBI36
NG_009073.1:g.69708del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+159del MANE Select ENSP00000359245.3:n.2382+159del
ENST00000649773.1:c.2161-1127del ENSP00000496882.1:n.2161-1127del
ENST00000370225.3:c.2382+159del ENSP00000359245.3:n.2382+159del
ENST00000536513.5:c.-65+6732del ENSP00000439707.2:n.-65+6732del
NM_000350.2:c.2382+159del NP_000341.2:n.2382+159del
NM_000350.3:c.2382+159del MANE Select NP_000341.2:n.2382+159del
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