Canonical Allele Identifier: CA645372152
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 545516
ClinVar RCV Id: RCV000656498 RCV001861674
dbSNP Id: rs1553196583
MyVariant Identifiers: chr1:g.94577010del (hg19) chr1:g.94111454del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111455del , CM000663.2:g.94111455del GRCh38
NC_000001.10:g.94577011del , CM000663.1:g.94577011del GRCh37
NC_000001.9:g.94349599del NCBI36
NG_009073.1:g.14697del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.287del MANE Select ENSP00000359245.3:p.Asn96ThrfsTer19
ENST00000649773.1:c.287del ENSP00000496882.1:p.Asn96ThrfsTer19
ENST00000370225.3:c.287del ENSP00000359245.3:p.Asn96ThrfsTer19
NM_000350.2:c.287del NP_000341.2:p.Asn96ThrfsTer19
NM_000350.3:c.287del MANE Select NP_000341.2:p.Asn96ThrfsTer19
Search 100 bp 5'
Search 100 bp 3'