Canonical Allele Identifier: CA339652
Gene: CRX HGNC NCBI

Linked Data

ClinVar Variation Id: 218922
ClinVar RCV Id: RCV002517362
dbSNP Id: rs864309707
COSMIC: COSM4674813
MyVariant Identifiers: chr19:g.48342981del (hg19) chr19:g.47839724del (hg38)
PubMed: PMID:25259927
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47839727del , CM000681.2:g.47839727del GRCh38
NC_000019.9:g.48342984del , CM000681.1:g.48342984del GRCh37
NC_000019.8:g.53034796del NCBI36
NG_008605.1:g.22886del

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.660del MANE Select ENSP00000221996.5:p.Tyr221ThrfsTer9
ENST00000221996.11:c.660del ENSP00000221996.5:p.Tyr221ThrfsTer9
ENST00000539067.5:c.660del ENSP00000445565.1:p.Tyr221ThrfsTer9
ENST00000613299.1:c.*382del ENSP00000478106.1:n.*382del
NM_000554.4:c.660del NP_000545.1:p.Tyr221ThrfsTer9
NM_000554.5:c.660del NP_000545.1:p.Tyr221ThrfsTer9
NM_000554.6:c.660del MANE Select NP_000545.1:p.Tyr221ThrfsTer9
Search 100 bp 5'
Search 100 bp 3'