Canonical Allele Identifier: CA740499336
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1266886258
gnomAD v3: 1-94041017-AT-A
gnomAD v4: 1-94041017-AT-A
MyVariant Identifiers: chr1:g.94506574del (hg19) chr1:g.94041018del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041021del , CM000663.2:g.94041021del GRCh38
NC_000001.10:g.94506577del , CM000663.1:g.94506577del GRCh37
NC_000001.9:g.94279165del NCBI36
NG_009073.1:g.85132del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+191del MANE Select ENSP00000359245.3:n.3522+191del
ENST00000370225.3:c.3522+191del ENSP00000359245.3:n.3522+191del
ENST00000536513.5:c.-64-929del ENSP00000439707.2:n.-64-929del
NM_000350.2:c.3522+191del NP_000341.2:n.3522+191del
NM_000350.3:c.3522+191del MANE Select NP_000341.2:n.3522+191del
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