Canonical Allele Identifier: CA2580078393

Gene: RP1

Linked Data

• ClinVar Variation Id: 1911297
• ClinVar RCV Id: RCV002589764

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626355_54626356delinsTA , CM000670.2:g.54626355_54626356delinsTA	GRCh38
NC_000008.10:g.55538915_55538916delinsTA , CM000670.1:g.55538915_55538916delinsTA	GRCh37
NC_000008.9:g.55701468_55701469delinsTA	NCBI36
NG_009840.1:g.15289_15290delinsTA
NG_009840.2:g.15289_15290delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2473_2474delinsTA MANE Select	ENSP00000220676.1:p.Ile825Tyr
ENST00000636932.1:c.787+4067_787+4068delinsTA	ENSP00000489857.1:n.787+4067_787+4068delinsTA
ENST00000637698.1:c.787+4067_787+4068delinsTA	ENSP00000490104.1:n.787+4067_787+4068delinsTA
ENST00000220676.1:c.2473_2474delinsTA	ENSP00000220676.1:p.Ile825Tyr
NM_006269.1:c.2473_2474delinsTA	NP_006260.1:p.Ile825Tyr
XM_017013721.1:c.2494_2495delinsTA	XP_016869210.1:p.Ile832Tyr
XM_017013722.1:c.2473_2474delinsTA	XP_016869211.1:p.Ile825Tyr
NM_001375654.1:c.787+4067_787+4068delinsTA	NP_001362583.1:n.787+4067_787+4068delinsTA
NM_006269.2:c.2473_2474delinsTA MANE Select	NP_006260.1:p.Ile825Tyr