Canonical Allele Identifier: CA1114000356

Gene: RP1

Linked Data

• dbSNP Id: rs1656592285
• gnomAD v3: 8-54627831-CA-C
• gnomAD v4: 8-54627831-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627835del , CM000670.2:g.54627835del	GRCh38
NC_000008.10:g.55540395del , CM000670.1:g.55540395del	GRCh37
NC_000008.9:g.55702948del	NCBI36
NG_009840.1:g.16769del
NG_009840.2:g.16769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3953del MANE Select	ENSP00000220676.1:p.Lys1318ArgfsTer28
ENST00000636932.1:c.787+5547del	ENSP00000489857.1:n.787+5547del
ENST00000637698.1:c.787+5547del	ENSP00000490104.1:n.787+5547del
ENST00000220676.1:c.3953del	ENSP00000220676.1:p.Lys1318ArgfsTer28
NM_006269.1:c.3953del	NP_006260.1:p.Lys1318ArgfsTer28
XM_017013721.1:c.3974del	XP_016869210.1:p.Lys1325ArgfsTer28
XM_017013722.1:c.3953del	XP_016869211.1:p.Lys1318ArgfsTer28
NM_001375654.1:c.787+5547del	NP_001362583.1:n.787+5547del
NM_006269.2:c.3953del MANE Select	NP_006260.1:p.Lys1318ArgfsTer28