Canonical Allele Identifier: CA10581672
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 236415
ClinVar RCV Id: RCV000225399 RCV001854791
dbSNP Id: rs878853327
MyVariant Identifiers: chr8:g.55537904del (hg19) chr8:g.54625344del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54625344del , CM000670.2:g.54625344del GRCh38
NC_000008.10:g.55537904del , CM000670.1:g.55537904del GRCh37
NC_000008.9:g.55700457del NCBI36
NG_009840.1:g.14278del
NG_009840.2:g.14278del

Transcript Alleles

HGVS Amino-acid change
ENST00000220676.2:c.1462del MANE Select ENSP00000220676.1:p.Glu488LysfsTer?
ENST00000636932.1:c.787+3056del ENSP00000489857.1:n.787+3056del
ENST00000637698.1:c.787+3056del ENSP00000490104.1:n.787+3056del
ENST00000220676.1:c.1462del ENSP00000220676.1:p.Glu488LysfsTer?
NM_006269.1:c.1462del NP_006260.1:p.Glu488LysfsTer?
XM_017013721.1:c.1483del XP_016869210.1:p.Glu495LysfsTer?
XM_017013722.1:c.1462del XP_016869211.1:p.Glu488LysfsTer?
NM_001375654.1:c.787+3056del NP_001362583.1:n.787+3056del
NM_006269.2:c.1462del MANE Select NP_006260.1:p.Glu488LysfsTer?
Search 100 bp 5'
Search 100 bp 3'