Canonical Allele Identifier: CA923726313

Gene: RP1

Linked Data

• ClinVar Variation Id: 2834570
• ClinVar RCV Id: RCV003694555

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625897del , CM000670.2:g.54625897del	GRCh38
NC_000008.10:g.55538457del , CM000670.1:g.55538457del	GRCh37
NC_000008.9:g.55701010del	NCBI36
NG_009840.1:g.14831del
NG_009840.2:g.14831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2015del MANE Select	ENSP00000220676.1:p.Lys672ArgfsTer10
ENST00000636932.1:c.787+3609del	ENSP00000489857.1:n.787+3609del
ENST00000637698.1:c.787+3609del	ENSP00000490104.1:n.787+3609del
ENST00000220676.1:c.2015del	ENSP00000220676.1:p.Lys672ArgfsTer10
NM_006269.1:c.2015del	NP_006260.1:p.Lys672ArgfsTer10
XM_017013721.1:c.2036del	XP_016869210.1:p.Lys679ArgfsTer10
XM_017013722.1:c.2015del	XP_016869211.1:p.Lys672ArgfsTer10
NM_001375654.1:c.787+3609del	NP_001362583.1:n.787+3609del
NM_006269.2:c.2015del MANE Select	NP_006260.1:p.Lys672ArgfsTer10