Canonical Allele Identifier: CA2580078392

Gene: RP1

Linked Data

• ClinVar Variation Id: 2106949
• ClinVar RCV Id: RCV003026731
• gnomAD v4: 8-54626335-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626338del , CM000670.2:g.54626338del	GRCh38
NC_000008.10:g.55538898del , CM000670.1:g.55538898del	GRCh37
NC_000008.9:g.55701451del	NCBI36
NG_009840.1:g.15272del
NG_009840.2:g.15272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2456del MANE Select	ENSP00000220676.1:p.Leu819TyrfsTer29
ENST00000636932.1:c.787+4050del	ENSP00000489857.1:n.787+4050del
ENST00000637698.1:c.787+4050del	ENSP00000490104.1:n.787+4050del
ENST00000220676.1:c.2456del	ENSP00000220676.1:p.Leu819TyrfsTer29
NM_006269.1:c.2456del	NP_006260.1:p.Leu819TyrfsTer29
XM_017013721.1:c.2477del	XP_016869210.1:p.Leu826TyrfsTer29
XM_017013722.1:c.2456del	XP_016869211.1:p.Leu819TyrfsTer29
NM_001375654.1:c.787+4050del	NP_001362583.1:n.787+4050del
NM_006269.2:c.2456del MANE Select	NP_006260.1:p.Leu819TyrfsTer29