Canonical Allele Identifier: CA4751816
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225457
ClinVar RCV Id: RCV000490313
dbSNP Id: rs762951570

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628078del , CM000670.2:g.54628078del GRCh38
NC_000008.10:g.55540638del , CM000670.1:g.55540638del GRCh37
NC_000008.9:g.55703191del NCBI36
NG_009840.1:g.17012del
NG_009840.2:g.17012del

Transcript Alleles

HGVS Amino-acid change
ENST00000220676.2:c.4196del MANE Select ENSP00000220676.1:p.Cys1399LeufsTer5
ENST00000636932.1:c.787+5790del ENSP00000489857.1:p.=
ENST00000637698.1:c.787+5790del ENSP00000490104.1:p.=
ENST00000220676.1:c.4196del ENSP00000220676.1:p.Cys1399LeufsTer5
NM_006269.1:c.4196del NP_006260.1:p.Cys1399LeufsTer5
XM_017013721.1:c.4217del XP_016869210.1:p.Cys1406LeufsTer5
XM_017013722.1:c.4196del XP_016869211.1:p.Cys1399LeufsTer5
NM_001375654.1:c.787+5790del NP_001362583.1:p.=
NM_006269.2:c.4196del MANE Select NP_006260.1:p.Cys1399LeufsTer5