Canonical Allele Identifier: CA4751816

Gene: RP1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628078del , CM000670.2:g.54628078del	GRCh38
NC_000008.10:g.55540638del , CM000670.1:g.55540638del	GRCh37
NC_000008.9:g.55703191del	NCBI36
NG_009840.1:g.17012del
NG_009840.2:g.17012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4196del MANE Select	ENSP00000220676.1:p.Cys1399LeufsTer5
ENST00000636932.1:c.787+5790del	ENSP00000489857.1:n.787+5790del
ENST00000637698.1:c.787+5790del	ENSP00000490104.1:n.787+5790del
ENST00000220676.1:c.4196del	ENSP00000220676.1:p.Cys1399LeufsTer5
NM_006269.1:c.4196del	NP_006260.1:p.Cys1399LeufsTer5
XM_017013721.1:c.4217del	XP_016869210.1:p.Cys1406LeufsTer5
XM_017013722.1:c.4196del	XP_016869211.1:p.Cys1399LeufsTer5
NM_001375654.1:c.787+5790del	NP_001362583.1:n.787+5790del
NM_006269.2:c.4196del MANE Select	NP_006260.1:p.Cys1399LeufsTer5