Canonical Allele Identifier: CA2499219348

Gene: RP1

Linked Data

• ClinVar Variation Id: 1074882
• ClinVar RCV Id: RCV001388326
• dbSNP Id: rs2129316431

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625987_54625988insG , CM000670.2:g.54625987_54625988insG	GRCh38
NC_000008.10:g.55538547_55538548insG , CM000670.1:g.55538547_55538548insG	GRCh37
NC_000008.9:g.55701100_55701101insG	NCBI36
NG_009840.1:g.14921_14922insG
NG_009840.2:g.14921_14922insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2105_2106insG MANE Select	ENSP00000220676.1:p.Ile702MetfsTer6
ENST00000636932.1:c.787+3699_787+3700insG	ENSP00000489857.1:n.787+3699_787+3700insG
ENST00000637698.1:c.787+3699_787+3700insG	ENSP00000490104.1:n.787+3699_787+3700insG
ENST00000220676.1:c.2105_2106insG	ENSP00000220676.1:p.Ile702MetfsTer6
NM_006269.1:c.2105_2106insG	NP_006260.1:p.Ile702MetfsTer6
XM_017013721.1:c.2126_2127insG	XP_016869210.1:p.Ile709MetfsTer6
XM_017013722.1:c.2105_2106insG	XP_016869211.1:p.Ile702MetfsTer6
NM_001375654.1:c.787+3699_787+3700insG	NP_001362583.1:n.787+3699_787+3700insG
NM_006269.2:c.2105_2106insG MANE Select	NP_006260.1:p.Ile702MetfsTer6