Canonical Allele Identifier: CA2573143176

Gene: RP1

Linked Data

• ClinVar Variation Id: 1450869
• ClinVar RCV Id: RCV001992977
• dbSNP Id: rs2129317292

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627679del , CM000670.2:g.54627679del	GRCh38
NC_000008.10:g.55540239del , CM000670.1:g.55540239del	GRCh37
NC_000008.9:g.55702792del	NCBI36
NG_009840.1:g.16613del
NG_009840.2:g.16613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3797del MANE Select	ENSP00000220676.1:p.Lys1266ArgfsTer28
ENST00000636932.1:c.787+5391del	ENSP00000489857.1:n.787+5391del
ENST00000637698.1:c.787+5391del	ENSP00000490104.1:n.787+5391del
ENST00000220676.1:c.3797del	ENSP00000220676.1:p.Lys1266ArgfsTer28
NM_006269.1:c.3797del	NP_006260.1:p.Lys1266ArgfsTer28
XM_017013721.1:c.3818del	XP_016869210.1:p.Lys1273ArgfsTer28
XM_017013722.1:c.3797del	XP_016869211.1:p.Lys1266ArgfsTer28
NM_001375654.1:c.787+5391del	NP_001362583.1:n.787+5391del
NM_006269.2:c.3797del MANE Select	NP_006260.1:p.Lys1266ArgfsTer28