Canonical Allele Identifier: CA4751739

Gene: RP1

Linked Data

• dbSNP Id: rs745640645
• ExAC: 8:55540189 CTG / C
• gnomAD v2: 8-55540189-CTG-C
• gnomAD v4: 8-54627629-CTG-C
• MyVariant Identifiers: chr8:g.55540190_55540191del (hg19) ; chr8:g.54627630_54627631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627633_54627634del , CM000670.2:g.54627633_54627634del	GRCh38
NC_000008.10:g.55540193_55540194del , CM000670.1:g.55540193_55540194del	GRCh37
NC_000008.9:g.55702746_55702747del	NCBI36
NG_009840.1:g.16567_16568del
NG_009840.2:g.16567_16568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3751_3752del MANE Select	ENSP00000220676.1:p.Val1251PhefsTer9
ENST00000636932.1:c.787+5345_787+5346del	ENSP00000489857.1:n.787+5345_787+5346del
ENST00000637698.1:c.787+5345_787+5346del	ENSP00000490104.1:n.787+5345_787+5346del
ENST00000220676.1:c.3751_3752del	ENSP00000220676.1:p.Val1251PhefsTer9
NM_006269.1:c.3751_3752del	NP_006260.1:p.Val1251PhefsTer9
XM_017013721.1:c.3772_3773del	XP_016869210.1:p.Val1258PhefsTer9
XM_017013722.1:c.3751_3752del	XP_016869211.1:p.Val1251PhefsTer9
NM_001375654.1:c.787+5345_787+5346del	NP_001362583.1:n.787+5345_787+5346del
NM_006269.2:c.3751_3752del MANE Select	NP_006260.1:p.Val1251PhefsTer9