Canonical Allele Identifier: CA915945688

Gene: RP1

Linked Data

• ClinVar Variation Id: 636090
• ClinVar RCV Id: RCV000787691
• dbSNP Id: rs1585563204

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625997del , CM000670.2:g.54625997del	GRCh38
NC_000008.10:g.55538557del , CM000670.1:g.55538557del	GRCh37
NC_000008.9:g.55701110del	NCBI36
NG_009840.1:g.14931del
NG_009840.2:g.14931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2115del MANE Select	ENSP00000220676.1:p.Gly706ValfsTer7
ENST00000636932.1:c.787+3709del	ENSP00000489857.1:n.787+3709del
ENST00000637698.1:c.787+3709del	ENSP00000490104.1:n.787+3709del
ENST00000220676.1:c.2115del	ENSP00000220676.1:p.Gly706ValfsTer7
NM_006269.1:c.2115del	NP_006260.1:p.Gly706ValfsTer7
XM_017013721.1:c.2136del	XP_016869210.1:p.Gly713ValfsTer7
XM_017013722.1:c.2115del	XP_016869211.1:p.Gly706ValfsTer7
NM_001375654.1:c.787+3709del	NP_001362583.1:n.787+3709del
NM_006269.2:c.2115del MANE Select	NP_006260.1:p.Gly706ValfsTer7