Canonical Allele Identifier: CA1139660531

Gene: RP1

Linked Data

• ClinVar Variation Id: 813214
• ClinVar RCV Id: RCV001199746 ; RCV001376228
• dbSNP Id: rs1806033536

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625990del , CM000670.2:g.54625990del	GRCh38
NC_000008.10:g.55538550del , CM000670.1:g.55538550del	GRCh37
NC_000008.9:g.55701103del	NCBI36
NG_009840.1:g.14924del
NG_009840.2:g.14924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2108del MANE Select	ENSP00000220676.1:p.Asn703ThrfsTer10
ENST00000636932.1:c.787+3702del	ENSP00000489857.1:n.787+3702del
ENST00000637698.1:c.787+3702del	ENSP00000490104.1:n.787+3702del
ENST00000220676.1:c.2108del	ENSP00000220676.1:p.Asn703ThrfsTer10
NM_006269.1:c.2108del	NP_006260.1:p.Asn703ThrfsTer10
XM_017013721.1:c.2129del	XP_016869210.1:p.Asn710ThrfsTer10
XM_017013722.1:c.2108del	XP_016869211.1:p.Asn703ThrfsTer10
NM_001375654.1:c.787+3702del	NP_001362583.1:n.787+3702del
NM_006269.2:c.2108del MANE Select	NP_006260.1:p.Asn703ThrfsTer10