Canonical Allele Identifier: CA1785188203

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626199_54626200delinsCT , CM000670.2:g.54626199_54626200delinsCT	GRCh38
NC_000008.10:g.55538759_55538760delinsCT , CM000670.1:g.55538759_55538760delinsCT	GRCh37
NC_000008.9:g.55701312_55701313delinsCT	NCBI36
NG_009840.1:g.15133_15134delinsCT
NG_009840.2:g.15133_15134delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2317_2318delinsCT MANE Select	ENSP00000220676.1:p.Leu773=
ENST00000636932.1:c.787+3911_787+3912delinsCT	ENSP00000489857.1:n.787+3911_787+3912delinsCT
ENST00000637698.1:c.787+3911_787+3912delinsCT	ENSP00000490104.1:n.787+3911_787+3912delinsCT
ENST00000220676.1:c.2317_2318delinsCT	ENSP00000220676.1:p.Leu773=
NM_006269.1:c.2317_2318delinsCT	NP_006260.1:p.Leu773=
XM_017013721.1:c.2338_2339delinsCT	XP_016869210.1:p.Leu780=
XM_017013722.1:c.2317_2318delinsCT	XP_016869211.1:p.Leu773=
NM_001375654.1:c.787+3911_787+3912delinsCT	NP_001362583.1:n.787+3911_787+3912delinsCT
NM_006269.2:c.2317_2318delinsCT MANE Select	NP_006260.1:p.Leu773=