Canonical Allele Identifier: CA461099638

Gene: RP1

Linked Data

• COSMIC: COSM1635823
• MyVariant Identifiers: chr8:g.55540200del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627641del , CM000670.2:g.54627641del	GRCh38
NC_000008.10:g.55540201del , CM000670.1:g.55540201del	GRCh37
NC_000008.9:g.55702754del	NCBI36
NG_009840.1:g.16575del
NG_009840.2:g.16575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3759del MANE Select	ENSP00000220676.1:p.Val1254Ter
ENST00000636932.1:c.787+5353del	ENSP00000489857.1:n.787+5353del
ENST00000637698.1:c.787+5353del	ENSP00000490104.1:n.787+5353del
ENST00000220676.1:c.3759del	ENSP00000220676.1:p.Val1254Ter
NM_006269.1:c.3759del	NP_006260.1:p.Val1254Ter
XM_017013721.1:c.3780del	XP_016869210.1:p.Val1261Ter
XM_017013722.1:c.3759del	XP_016869211.1:p.Val1254Ter
NM_001375654.1:c.787+5353del	NP_001362583.1:n.787+5353del
NM_006269.2:c.3759del MANE Select	NP_006260.1:p.Val1254Ter