Canonical Allele Identifier: CA524697368
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1451762471
gnomAD v2: 1-94486977-AG-A
gnomAD v4: 1-94021421-AG-A
MyVariant Identifiers: chr1:g.94486978del (hg19) chr1:g.94021422del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021422del , CM000663.2:g.94021422del GRCh38
NC_000001.10:g.94486978del , CM000663.1:g.94486978del GRCh37
NC_000001.9:g.94259566del NCBI36
NG_009073.1:g.104728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-13del MANE Select ENSP00000359245.3:n.4849-13del
ENST00000370225.3:c.4849-13del ENSP00000359245.3:n.4849-13del
ENST00000460514.1:n.343-13del
ENST00000536513.5:c.1225-13del ENSP00000439707.2:n.1225-13del
NM_000350.2:c.4849-13del NP_000341.2:n.4849-13del
NM_000350.3:c.4849-13del MANE Select NP_000341.2:n.4849-13del
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