Canonical Allele Identifier: CA2780387017

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626258_54626316del , CM000670.2:g.54626258_54626316del	GRCh38
NC_000008.10:g.55538818_55538876del , CM000670.1:g.55538818_55538876del	GRCh37
NC_000008.9:g.55701371_55701429del	NCBI36
NG_009840.1:g.15192_15250del
NG_009840.2:g.15192_15250del

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.2376_2434del MANE Select	ENSP00000220676.1:p.Arg793TyrfsTer3
ENST00000636932.1:c.787+3970_787+4028del	ENSP00000489857.1:n.787+3970_787+4028del
ENST00000637698.1:c.787+3970_787+4028del	ENSP00000490104.1:n.787+3970_787+4028del
ENST00000220676.1:c.2376_2434del	ENSP00000220676.1:p.Arg793TyrfsTer3
NM_006269.1:c.2376_2434del	NP_006260.1:p.Arg793TyrfsTer3
XM_017013721.1:c.2397_2455del	XP_016869210.1:p.Arg800TyrfsTer3
XM_017013722.1:c.2376_2434del	XP_016869211.1:p.Arg793TyrfsTer3
NM_001375654.1:c.787+3970_787+4028del	NP_001362583.1:n.787+3970_787+4028del
NM_006269.2:c.2376_2434del MANE Select	NP_006260.1:p.Arg793TyrfsTer3