Canonical Allele Identifier: CA1785188884

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627772_54627773delinsGT , CM000670.2:g.54627772_54627773delinsGT	GRCh38
NC_000008.10:g.55540332_55540333delinsGT , CM000670.1:g.55540332_55540333delinsGT	GRCh37
NC_000008.9:g.55702885_55702886delinsGT	NCBI36
NG_009840.1:g.16706_16707delinsGT
NG_009840.2:g.16706_16707delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3890_3891delinsGT MANE Select	ENSP00000220676.1:p.Cys1297=
ENST00000636932.1:c.787+5484_787+5485delinsGT	ENSP00000489857.1:n.787+5484_787+5485delinsGT
ENST00000637698.1:c.787+5484_787+5485delinsGT	ENSP00000490104.1:n.787+5484_787+5485delinsGT
ENST00000220676.1:c.3890_3891delinsGT	ENSP00000220676.1:p.Cys1297=
NM_006269.1:c.3890_3891delinsGT	NP_006260.1:p.Cys1297=
XM_017013721.1:c.3911_3912delinsGT	XP_016869210.1:p.Cys1304=
XM_017013722.1:c.3890_3891delinsGT	XP_016869211.1:p.Cys1297=
NM_001375654.1:c.787+5484_787+5485delinsGT	NP_001362583.1:n.787+5484_787+5485delinsGT
NM_006269.2:c.3890_3891delinsGT MANE Select	NP_006260.1:p.Cys1297=