Canonical Allele Identifier: CA2519387757

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626137_54626138insCTGT , CM000670.2:g.54626137_54626138insCTGT	GRCh38
NC_000008.10:g.55538697_55538698insCTGT , CM000670.1:g.55538697_55538698insCTGT	GRCh37
NC_000008.9:g.55701250_55701251insCTGT	NCBI36
NG_009840.1:g.15071_15072insCTGT
NG_009840.2:g.15071_15072insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2255_2256insCTGT MANE Select	ENSP00000220676.1:p.Ile753CysfsTer8
ENST00000636932.1:c.787+3849_787+3850insCTGT	ENSP00000489857.1:n.787+3849_787+3850insCTGT
ENST00000637698.1:c.787+3849_787+3850insCTGT	ENSP00000490104.1:n.787+3849_787+3850insCTGT
ENST00000220676.1:c.2255_2256insCTGT	ENSP00000220676.1:p.Ile753CysfsTer8
NM_006269.1:c.2255_2256insCTGT	NP_006260.1:p.Ile753CysfsTer8
XM_017013721.1:c.2276_2277insCTGT	XP_016869210.1:p.Ile760CysfsTer8
XM_017013722.1:c.2255_2256insCTGT	XP_016869211.1:p.Ile753CysfsTer8
NM_001375654.1:c.787+3849_787+3850insCTGT	NP_001362583.1:n.787+3849_787+3850insCTGT
NM_006269.2:c.2255_2256insCTGT MANE Select	NP_006260.1:p.Ile753CysfsTer8