Canonical Allele Identifier: CA2780387013

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626173_54626174insACCC , CM000670.2:g.54626173_54626174insACCC	GRCh38
NC_000008.10:g.55538733_55538734insACCC , CM000670.1:g.55538733_55538734insACCC	GRCh37
NC_000008.9:g.55701286_55701287insACCC	NCBI36
NG_009840.1:g.15107_15108insACCC
NG_009840.2:g.15107_15108insACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2291_2292insACCC MANE Select	ENSP00000220676.1:p.Thr765ProfsTer17
ENST00000636932.1:c.787+3885_787+3886insACCC	ENSP00000489857.1:n.787+3885_787+3886insACCC
ENST00000637698.1:c.787+3885_787+3886insACCC	ENSP00000490104.1:n.787+3885_787+3886insACCC
ENST00000220676.1:c.2291_2292insACCC	ENSP00000220676.1:p.Thr765ProfsTer17
NM_006269.1:c.2291_2292insACCC	NP_006260.1:p.Thr765ProfsTer17
XM_017013721.1:c.2312_2313insACCC	XP_016869210.1:p.Thr772ProfsTer17
XM_017013722.1:c.2291_2292insACCC	XP_016869211.1:p.Thr765ProfsTer17
NM_001375654.1:c.787+3885_787+3886insACCC	NP_001362583.1:n.787+3885_787+3886insACCC
NM_006269.2:c.2291_2292insACCC MANE Select	NP_006260.1:p.Thr765ProfsTer17