Canonical Allele Identifier: CA1785188200

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626190_54626191delinsGT , CM000670.2:g.54626190_54626191delinsGT	GRCh38
NC_000008.10:g.55538750_55538751delinsGT , CM000670.1:g.55538750_55538751delinsGT	GRCh37
NC_000008.9:g.55701303_55701304delinsGT	NCBI36
NG_009840.1:g.15124_15125delinsGT
NG_009840.2:g.15124_15125delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2308_2309delinsGT MANE Select	ENSP00000220676.1:p.Val770=
ENST00000636932.1:c.787+3902_787+3903delinsGT	ENSP00000489857.1:n.787+3902_787+3903delinsGT
ENST00000637698.1:c.787+3902_787+3903delinsGT	ENSP00000490104.1:n.787+3902_787+3903delinsGT
ENST00000220676.1:c.2308_2309delinsGT	ENSP00000220676.1:p.Val770=
NM_006269.1:c.2308_2309delinsGT	NP_006260.1:p.Val770=
XM_017013721.1:c.2329_2330delinsGT	XP_016869210.1:p.Val777=
XM_017013722.1:c.2308_2309delinsGT	XP_016869211.1:p.Val770=
NM_001375654.1:c.787+3902_787+3903delinsGT	NP_001362583.1:n.787+3902_787+3903delinsGT
NM_006269.2:c.2308_2309delinsGT MANE Select	NP_006260.1:p.Val770=