Canonical Allele Identifier: CA461099623

Gene: RP1

Linked Data

• COSMIC: COSM1264503
• MyVariant Identifiers: chr8:g.55540194_55540195insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627637dup , CM000670.2:g.54627637dup	GRCh38
NC_000008.10:g.55540197dup , CM000670.1:g.55540197dup	GRCh37
NC_000008.9:g.55702750dup	NCBI36
NG_009840.1:g.16571dup
NG_009840.2:g.16571dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3755dup MANE Select	ENSP00000220676.1:p.Leu1252PhefsTer9
ENST00000636932.1:c.787+5349dup	ENSP00000489857.1:n.787+5349dup
ENST00000637698.1:c.787+5349dup	ENSP00000490104.1:n.787+5349dup
ENST00000220676.1:c.3755dup	ENSP00000220676.1:p.Leu1252PhefsTer9
NM_006269.1:c.3755dup	NP_006260.1:p.Leu1252PhefsTer9
XM_017013721.1:c.3776dup	XP_016869210.1:p.Leu1259PhefsTer9
XM_017013722.1:c.3755dup	XP_016869211.1:p.Leu1252PhefsTer9
NM_001375654.1:c.787+5349dup	NP_001362583.1:n.787+5349dup
NM_006269.2:c.3755dup MANE Select	NP_006260.1:p.Leu1252PhefsTer9