Canonical Allele Identifier: CA1785189030

Gene: RP1

Linked Data

• ClinVar Variation Id: 1442823
• ClinVar RCV Id: RCV001969948
• dbSNP Id: rs1806128079
• gnomAD v4: 8-54628093-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628094del , CM000670.2:g.54628094del	GRCh38
NC_000008.10:g.55540654del , CM000670.1:g.55540654del	GRCh37
NC_000008.9:g.55703207del	NCBI36
NG_009840.1:g.17028del
NG_009840.2:g.17028del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4212del MANE Select	ENSP00000220676.1:p.Ser1404ArgfsTer14
ENST00000636932.1:c.787+5806del	ENSP00000489857.1:n.787+5806del
ENST00000637698.1:c.787+5806del	ENSP00000490104.1:n.787+5806del
ENST00000220676.1:c.4212del	ENSP00000220676.1:p.Ser1404ArgfsTer14
NM_006269.1:c.4212del	NP_006260.1:p.Ser1404ArgfsTer14
XM_017013721.1:c.4233del	XP_016869210.1:p.Ser1411ArgfsTer14
XM_017013722.1:c.4212del	XP_016869211.1:p.Ser1404ArgfsTer14
NM_001375654.1:c.787+5806del	NP_001362583.1:n.787+5806del
NM_006269.2:c.4212del MANE Select	NP_006260.1:p.Ser1404ArgfsTer14