Canonical Allele Identifier: CA358686

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625340_54625343dup , CM000670.2:g.54625340_54625343dup	GRCh38
NC_000008.10:g.55537900_55537903dup , CM000670.1:g.55537900_55537903dup	GRCh37
NC_000008.9:g.55700453_55700456dup	NCBI36
NG_009840.1:g.14274_14277dup
NG_009840.2:g.14274_14277dup

Transcript Alleles

HGVS	Amino-acid Change
NM_006269.2:c.1458_1461dup MANE Select	NP_006260.1:p.Glu488Ter
ENST00000220676.2:c.1458_1461dup MANE Select	ENSP00000220676.1:p.Glu488Ter
NM_001375654.1:c.787+3052_787+3055dup	NP_001362583.1:n.787+3052_787+3055dup
NM_006269.1:c.1458_1461dup	NP_006260.1:p.Glu488Ter
ENST00000220676.1:c.1458_1461dup	ENSP00000220676.1:p.Glu488Ter
ENST00000636932.1:c.787+3052_787+3055dup	ENSP00000489857.1:n.787+3052_787+3055dup
ENST00000637698.1:c.787+3052_787+3055dup	ENSP00000490104.1:n.787+3052_787+3055dup
XM_017013721.1:c.1479_1482dup	XP_016869210.1:p.Glu495Ter
XM_017013722.1:c.1458_1461dup	XP_016869211.1:p.Glu488Ter