Canonical Allele Identifier: CA2523656826

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627969_54627985del , CM000670.2:g.54627969_54627985del	GRCh38
NC_000008.10:g.55540529_55540545del , CM000670.1:g.55540529_55540545del	GRCh37
NC_000008.9:g.55703082_55703098del	NCBI36
NG_009840.1:g.16903_16919del
NG_009840.2:g.16903_16919del

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.4087_4103del MANE Select	ENSP00000220676.1:p.Glu1363SerfsTer11
ENST00000636932.1:c.787+5681_787+5697del	ENSP00000489857.1:n.787+5681_787+5697del
ENST00000637698.1:c.787+5681_787+5697del	ENSP00000490104.1:n.787+5681_787+5697del
ENST00000220676.1:c.4087_4103del	ENSP00000220676.1:p.Glu1363SerfsTer11
NM_006269.1:c.4087_4103del	NP_006260.1:p.Glu1363SerfsTer11
XM_017013721.1:c.4108_4124del	XP_016869210.1:p.Glu1370SerfsTer11
XM_017013722.1:c.4087_4103del	XP_016869211.1:p.Glu1363SerfsTer11
NM_001375654.1:c.787+5681_787+5697del	NP_001362583.1:n.787+5681_787+5697del
NM_006269.2:c.4087_4103del MANE Select	NP_006260.1:p.Glu1363SerfsTer11