Canonical Allele Identifier: CA1785188185

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626161_54626166delinsATAAAT , CM000670.2:g.54626161_54626166delinsATAAAT	GRCh38
NC_000008.10:g.55538721_55538726delinsATAAAT , CM000670.1:g.55538721_55538726delinsATAAAT	GRCh37
NC_000008.9:g.55701274_55701279delinsATAAAT	NCBI36
NG_009840.1:g.15095_15100delinsATAAAT
NG_009840.2:g.15095_15100delinsATAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2279_2284delinsATAAAT MANE Select	ENSP00000220676.1:p.Asn760=
ENST00000636932.1:c.787+3873_787+3878delinsATAAAT	ENSP00000489857.1:n.787+3873_787+3878delinsATAAAT
ENST00000637698.1:c.787+3873_787+3878delinsATAAAT	ENSP00000490104.1:n.787+3873_787+3878delinsATAAAT
ENST00000220676.1:c.2279_2284delinsATAAAT	ENSP00000220676.1:p.Asn760=
NM_006269.1:c.2279_2284delinsATAAAT	NP_006260.1:p.Asn760=
XM_017013721.1:c.2300_2305delinsATAAAT	XP_016869210.1:p.Asn767=
XM_017013722.1:c.2279_2284delinsATAAAT	XP_016869211.1:p.Asn760=
NM_001375654.1:c.787+3873_787+3878delinsATAAAT	NP_001362583.1:n.787+3873_787+3878delinsATAAAT
NM_006269.2:c.2279_2284delinsATAAAT MANE Select	NP_006260.1:p.Asn760=