Canonical Allele Identifier: CA2586966913
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3233608
ClinVar RCV Id: RCV004526458
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060643del , CM000663.2:g.94060643del GRCh38
NC_000001.10:g.94526199del , CM000663.1:g.94526199del GRCh37
NC_000001.9:g.94298787del NCBI36
NG_009073.1:g.65508del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2055del MANE Select ENSP00000359245.3:p.Leu686Ter
ENST00000649773.1:c.2055del ENSP00000496882.1:p.Leu686Ter
ENST00000370225.3:c.2055del ENSP00000359245.3:p.Leu686Ter
ENST00000472033.1:n.175del
ENST00000536513.5:c.-65+2532del ENSP00000439707.2:n.-65+2532del
NM_000350.2:c.2055del NP_000341.2:p.Leu686Ter
NM_000350.3:c.2055del MANE Select NP_000341.2:p.Leu686Ter
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Search 100 bp 3'