Canonical Allele Identifier: CA645560583

Gene: RP1

Linked Data

• COSMIC: COSM4722467

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628160_54628161insT , CM000670.2:g.54628160_54628161insT	GRCh38
NC_000008.10:g.55540720_55540721insT , CM000670.1:g.55540720_55540721insT	GRCh37
NC_000008.9:g.55703273_55703274insT	NCBI36
NG_009840.1:g.17094_17095insT
NG_009840.2:g.17094_17095insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4278_4279insT MANE Select	ENSP00000220676.1:p.Lys1427Ter
ENST00000636932.1:c.787+5872_787+5873insT	ENSP00000489857.1:n.787+5872_787+5873insT
ENST00000637698.1:c.787+5872_787+5873insT	ENSP00000490104.1:n.787+5872_787+5873insT
ENST00000220676.1:c.4278_4279insT	ENSP00000220676.1:p.Lys1427Ter
NM_006269.1:c.4278_4279insT	NP_006260.1:p.Lys1427Ter
XM_017013721.1:c.4299_4300insT	XP_016869210.1:p.Lys1434Ter
XM_017013722.1:c.4278_4279insT	XP_016869211.1:p.Lys1427Ter
NM_001375654.1:c.787+5872_787+5873insT	NP_001362583.1:n.787+5872_787+5873insT
NM_006269.2:c.4278_4279insT MANE Select	NP_006260.1:p.Lys1427Ter