Canonical Allele Identifier: CA2499219352
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065776
ClinVar RCV Id: RCV001376506 RCV002550239
dbSNP Id: rs2129317503
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628053del , CM000670.2:g.54628053del GRCh38
NC_000008.10:g.55540613del , CM000670.1:g.55540613del GRCh37
NC_000008.9:g.55703166del NCBI36
NG_009840.1:g.16987del
NG_009840.2:g.16987del

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4171del MANE Select ENSP00000220676.1:p.Gln1391LysfsTer6
ENST00000636932.1:c.787+5765del ENSP00000489857.1:n.787+5765del
ENST00000637698.1:c.787+5765del ENSP00000490104.1:n.787+5765del
ENST00000220676.1:c.4171del ENSP00000220676.1:p.Gln1391LysfsTer6
NM_006269.1:c.4171del NP_006260.1:p.Gln1391LysfsTer6
XM_017013721.1:c.4192del XP_016869210.1:p.Gln1398LysfsTer6
XM_017013722.1:c.4171del XP_016869211.1:p.Gln1391LysfsTer6
NM_001375654.1:c.787+5765del NP_001362583.1:n.787+5765del
NM_006269.2:c.4171del MANE Select NP_006260.1:p.Gln1391LysfsTer6
Search 100 bp 5'
Search 100 bp 3'