Canonical Allele Identifier: CA358684

Gene: RP1

Linked Data

• ClinVar Variation Id: 5966
• ClinVar RCV Id: RCV000006330 ; RCV000504689 ; RCV001073327 ; RCV001212087
• dbSNP Id: rs869320726
• gnomAD v4: 8-54626161-ATAAAT-A
• MyVariant Identifiers: chr8:g.55538727_55538731del (hg19) ; chr8:g.54626167_54626171del (hg38)
• PubMed: PMID:10391211 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626167_54626171del , CM000670.2:g.54626167_54626171del	GRCh38
NC_000008.10:g.55538727_55538731del , CM000670.1:g.55538727_55538731del	GRCh37
NC_000008.9:g.55701280_55701284del	NCBI36
NG_009840.1:g.15101_15105del
NG_009840.2:g.15101_15105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2285_2289del MANE Select	ENSP00000220676.1:p.Leu762TyrfsTer17
ENST00000636932.1:c.787+3879_787+3883del	ENSP00000489857.1:n.787+3879_787+3883del
ENST00000637698.1:c.787+3879_787+3883del	ENSP00000490104.1:n.787+3879_787+3883del
ENST00000220676.1:c.2285_2289del	ENSP00000220676.1:p.Leu762TyrfsTer17
NM_006269.1:c.2285_2289del	NP_006260.1:p.Leu762TyrfsTer17
XM_017013721.1:c.2306_2310del	XP_016869210.1:p.Leu769TyrfsTer17
XM_017013722.1:c.2285_2289del	XP_016869211.1:p.Leu762TyrfsTer17
NM_001375654.1:c.787+3879_787+3883del	NP_001362583.1:n.787+3879_787+3883del
NM_006269.2:c.2285_2289del MANE Select	NP_006260.1:p.Leu762TyrfsTer17