Canonical Allele Identifier: CA1139660533

Gene: RP1

Linked Data

• ClinVar Variation Id: 958739
• ClinVar RCV Id: RCV001231958
• dbSNP Id: rs1806040543

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626192del , CM000670.2:g.54626192del	GRCh38
NC_000008.10:g.55538752del , CM000670.1:g.55538752del	GRCh37
NC_000008.9:g.55701305del	NCBI36
NG_009840.1:g.15126del
NG_009840.2:g.15126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2310del MANE Select	ENSP00000220676.1:p.Gln771LysfsTer4
ENST00000636932.1:c.787+3904del	ENSP00000489857.1:n.787+3904del
ENST00000637698.1:c.787+3904del	ENSP00000490104.1:n.787+3904del
ENST00000220676.1:c.2310del	ENSP00000220676.1:p.Gln771LysfsTer4
NM_006269.1:c.2310del	NP_006260.1:p.Gln771LysfsTer4
XM_017013721.1:c.2331del	XP_016869210.1:p.Gln778LysfsTer4
XM_017013722.1:c.2310del	XP_016869211.1:p.Gln771LysfsTer4
NM_001375654.1:c.787+3904del	NP_001362583.1:n.787+3904del
NM_006269.2:c.2310del MANE Select	NP_006260.1:p.Gln771LysfsTer4