Canonical Allele Identifier: CA227435
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99483
ClinVar RCV Id: RCV000085844
dbSNP Id: rs62646877
MyVariant Identifiers: chr1:g.94463432_94463439del (hg19) chr1:g.93997876_93997883del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997879_93997886del , CM000663.2:g.93997879_93997886del GRCh38
NC_000001.10:g.94463435_94463442del , CM000663.1:g.94463435_94463442del GRCh37
NC_000001.9:g.94236023_94236030del NCBI36
NG_009073.1:g.128267_128274del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6707_6714del MANE Select ENSP00000359245.3:p.Val2236AspfsTer12
ENST00000370225.3:c.6707_6714del ENSP00000359245.3:p.Val2236AspfsTer12
ENST00000536513.5:c.3083_3090del ENSP00000439707.2:p.Val1028AspfsTer12
NM_000350.2:c.6707_6714del NP_000341.2:p.Val2236AspfsTer12
NM_000350.3:c.6707_6714del MANE Select NP_000341.2:p.Val2236AspfsTer12
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