Canonical Allele Identifier: CA1785188135

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626049_54626063delinsGGAGGGATACTTTGT , CM000670.2:g.54626049_54626063delinsGGAGGGATACTTTGT	GRCh38
NC_000008.10:g.55538609_55538623delinsGGAGGGATACTTTGT , CM000670.1:g.55538609_55538623delinsGGAGGGATACTTTGT	GRCh37
NC_000008.9:g.55701162_55701176delinsGGAGGGATACTTTGT	NCBI36
NG_009840.1:g.14983_14997delinsGGAGGGATACTTTGT
NG_009840.2:g.14983_14997delinsGGAGGGATACTTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2167_2181delinsGGAGGGATACTTTGT MANE Select	ENSP00000220676.1:p.Gly723=
ENST00000636932.1:c.787+3761_787+3775delinsGGAGGGATACTTTGT	ENSP00000489857.1:n.787+3761_787+3775delinsGGAGGGATACTTTGT
ENST00000637698.1:c.787+3761_787+3775delinsGGAGGGATACTTTGT	ENSP00000490104.1:n.787+3761_787+3775delinsGGAGGGATACTTTGT
ENST00000220676.1:c.2167_2181delinsGGAGGGATACTTTGT	ENSP00000220676.1:p.Gly723=
NM_006269.1:c.2167_2181delinsGGAGGGATACTTTGT	NP_006260.1:p.Gly723=
XM_017013721.1:c.2188_2202delinsGGAGGGATACTTTGT	XP_016869210.1:p.Gly730=
XM_017013722.1:c.2167_2181delinsGGAGGGATACTTTGT	XP_016869211.1:p.Gly723=
NM_001375654.1:c.787+3761_787+3775delinsGGAGGGATACTTTGT	NP_001362583.1:n.787+3761_787+3775delinsGGAGGGATACTTTGT
NM_006269.2:c.2167_2181delinsGGAGGGATACTTTGT MANE Select	NP_006260.1:p.Gly723=