Canonical Allele Identifier: CA1785188998

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628027_54628032delinsATGGAT , CM000670.2:g.54628027_54628032delinsATGGAT	GRCh38
NC_000008.10:g.55540587_55540592delinsATGGAT , CM000670.1:g.55540587_55540592delinsATGGAT	GRCh37
NC_000008.9:g.55703140_55703145delinsATGGAT	NCBI36
NG_009840.1:g.16961_16966delinsATGGAT
NG_009840.2:g.16961_16966delinsATGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4145_4150delinsATGGAT MANE Select	ENSP00000220676.1:p.Asn1382=
ENST00000636932.1:c.787+5739_787+5744delinsATGGAT	ENSP00000489857.1:n.787+5739_787+5744delinsATGGAT
ENST00000637698.1:c.787+5739_787+5744delinsATGGAT	ENSP00000490104.1:n.787+5739_787+5744delinsATGGAT
ENST00000220676.1:c.4145_4150delinsATGGAT	ENSP00000220676.1:p.Asn1382=
NM_006269.1:c.4145_4150delinsATGGAT	NP_006260.1:p.Asn1382=
XM_017013721.1:c.4166_4171delinsATGGAT	XP_016869210.1:p.Asn1389=
XM_017013722.1:c.4145_4150delinsATGGAT	XP_016869211.1:p.Asn1382=
NM_001375654.1:c.787+5739_787+5744delinsATGGAT	NP_001362583.1:n.787+5739_787+5744delinsATGGAT
NM_006269.2:c.4145_4150delinsATGGAT MANE Select	NP_006260.1:p.Asn1382=