Canonical Allele Identifier: CA1785188862

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627718_54627719delinsCT , CM000670.2:g.54627718_54627719delinsCT	GRCh38
NC_000008.10:g.55540278_55540279delinsCT , CM000670.1:g.55540278_55540279delinsCT	GRCh37
NC_000008.9:g.55702831_55702832delinsCT	NCBI36
NG_009840.1:g.16652_16653delinsCT
NG_009840.2:g.16652_16653delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3836_3837delinsCT MANE Select	ENSP00000220676.1:p.Thr1279=
ENST00000636932.1:c.787+5430_787+5431delinsCT	ENSP00000489857.1:n.787+5430_787+5431delinsCT
ENST00000637698.1:c.787+5430_787+5431delinsCT	ENSP00000490104.1:n.787+5430_787+5431delinsCT
ENST00000220676.1:c.3836_3837delinsCT	ENSP00000220676.1:p.Thr1279=
NM_006269.1:c.3836_3837delinsCT	NP_006260.1:p.Thr1279=
XM_017013721.1:c.3857_3858delinsCT	XP_016869210.1:p.Thr1286=
XM_017013722.1:c.3836_3837delinsCT	XP_016869211.1:p.Thr1279=
NM_001375654.1:c.787+5430_787+5431delinsCT	NP_001362583.1:n.787+5430_787+5431delinsCT
NM_006269.2:c.3836_3837delinsCT MANE Select	NP_006260.1:p.Thr1279=