Canonical Allele Identifier: CA2518729821

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627988_54627995del , CM000670.2:g.54627988_54627995del	GRCh38
NC_000008.10:g.55540548_55540555del , CM000670.1:g.55540548_55540555del	GRCh37
NC_000008.9:g.55703101_55703108del	NCBI36
NG_009840.1:g.16922_16929del
NG_009840.2:g.16922_16929del

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.4106_4113del MANE Select	ENSP00000220676.1:p.Gln1369ProfsTer8
ENST00000636932.1:c.787+5700_787+5707del	ENSP00000489857.1:n.787+5700_787+5707del
ENST00000637698.1:c.787+5700_787+5707del	ENSP00000490104.1:n.787+5700_787+5707del
ENST00000220676.1:c.4106_4113del	ENSP00000220676.1:p.Gln1369ProfsTer8
NM_006269.1:c.4106_4113del	NP_006260.1:p.Gln1369ProfsTer8
XM_017013721.1:c.4127_4134del	XP_016869210.1:p.Gln1376ProfsTer8
XM_017013722.1:c.4106_4113del	XP_016869211.1:p.Gln1369ProfsTer8
NM_001375654.1:c.787+5700_787+5707del	NP_001362583.1:n.787+5700_787+5707del
NM_006269.2:c.4106_4113del MANE Select	NP_006260.1:p.Gln1369ProfsTer8