Canonical Allele Identifier: CA2740095046

Gene: RP1

Linked Data

• ClinVar Variation Id: 3028117
• ClinVar RCV Id: RCV003889487

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627709_54627719del , CM000670.2:g.54627709_54627719del	GRCh38
NC_000008.10:g.55540269_55540279del , CM000670.1:g.55540269_55540279del	GRCh37
NC_000008.9:g.55702822_55702832del	NCBI36
NG_009840.1:g.16643_16653del
NG_009840.2:g.16643_16653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3827_3837del MANE Select	ENSP00000220676.1:p.Pro1276LeufsTer4
ENST00000636932.1:c.787+5421_787+5431del	ENSP00000489857.1:n.787+5421_787+5431del
ENST00000637698.1:c.787+5421_787+5431del	ENSP00000490104.1:n.787+5421_787+5431del
ENST00000220676.1:c.3827_3837del	ENSP00000220676.1:p.Pro1276LeufsTer4
NM_006269.1:c.3827_3837del	NP_006260.1:p.Pro1276LeufsTer4
XM_017013721.1:c.3848_3858del	XP_016869210.1:p.Pro1283LeufsTer4
XM_017013722.1:c.3827_3837del	XP_016869211.1:p.Pro1276LeufsTer4
NM_001375654.1:c.787+5421_787+5431del	NP_001362583.1:n.787+5421_787+5431del
NM_006269.2:c.3827_3837del MANE Select	NP_006260.1:p.Pro1276LeufsTer4