Canonical Allele Identifier: CA2780387002

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625833_54625849del , CM000670.2:g.54625833_54625849del	GRCh38
NC_000008.10:g.55538393_55538409del , CM000670.1:g.55538393_55538409del	GRCh37
NC_000008.9:g.55700946_55700962del	NCBI36
NG_009840.1:g.14767_14783del
NG_009840.2:g.14767_14783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.1951_1967del MANE Select	ENSP00000220676.1:p.Gln651ThrfsTer5
ENST00000636932.1:c.787+3545_787+3561del	ENSP00000489857.1:n.787+3545_787+3561del
ENST00000637698.1:c.787+3545_787+3561del	ENSP00000490104.1:n.787+3545_787+3561del
ENST00000220676.1:c.1951_1967del	ENSP00000220676.1:p.Gln651ThrfsTer5
NM_006269.1:c.1951_1967del	NP_006260.1:p.Gln651ThrfsTer5
XM_017013721.1:c.1972_1988del	XP_016869210.1:p.Gln658ThrfsTer5
XM_017013722.1:c.1951_1967del	XP_016869211.1:p.Gln651ThrfsTer5
NM_001375654.1:c.787+3545_787+3561del	NP_001362583.1:n.787+3545_787+3561del
NM_006269.2:c.1951_1967del MANE Select	NP_006260.1:p.Gln651ThrfsTer5