Canonical Allele Identifier: CA2499219345

Gene: RP1

Linked Data

• ClinVar Variation Id: 1213901
• ClinVar RCV Id: RCV001591843
• dbSNP Id: rs2129316359

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625876del , CM000670.2:g.54625876del	GRCh38
NC_000008.10:g.55538436del , CM000670.1:g.55538436del	GRCh37
NC_000008.9:g.55700989del	NCBI36
NG_009840.1:g.14810del
NG_009840.2:g.14810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.1994del MANE Select	ENSP00000220676.1:p.Leu665CysfsTer17
ENST00000636932.1:c.787+3588del	ENSP00000489857.1:n.787+3588del
ENST00000637698.1:c.787+3588del	ENSP00000490104.1:n.787+3588del
ENST00000220676.1:c.1994del	ENSP00000220676.1:p.Leu665CysfsTer17
NM_006269.1:c.1994del	NP_006260.1:p.Leu665CysfsTer17
XM_017013721.1:c.2015del	XP_016869210.1:p.Leu672CysfsTer17
XM_017013722.1:c.1994del	XP_016869211.1:p.Leu665CysfsTer17
NM_001375654.1:c.787+3588del	NP_001362583.1:n.787+3588del
NM_006269.2:c.1994del MANE Select	NP_006260.1:p.Leu665CysfsTer17