Canonical Allele Identifier: CA2696611702
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs2101078004
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062582del , CM000663.2:g.94062582del GRCh38
NC_000001.10:g.94528138del , CM000663.1:g.94528138del GRCh37
NC_000001.9:g.94300726del NCBI36
NG_009073.1:g.63568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1932del MANE Select ENSP00000359245.3:p.Asp644GlufsTer5
ENST00000649773.1:c.1932del ENSP00000496882.1:p.Asp644GlufsTer5
ENST00000370225.3:c.1932del ENSP00000359245.3:p.Asp644GlufsTer5
ENST00000536513.5:c.-65+592del ENSP00000439707.2:n.-65+592del
NM_000350.2:c.1932del NP_000341.2:p.Asp644GlufsTer5
NM_000350.3:c.1932del MANE Select NP_000341.2:p.Asp644GlufsTer5
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