Canonical Allele Identifier: CA1785188189

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626166_54626170delinsTTAAA , CM000670.2:g.54626166_54626170delinsTTAAA	GRCh38
NC_000008.10:g.55538726_55538730delinsTTAAA , CM000670.1:g.55538726_55538730delinsTTAAA	GRCh37
NC_000008.9:g.55701279_55701283delinsTTAAA	NCBI36
NG_009840.1:g.15100_15104delinsTTAAA
NG_009840.2:g.15100_15104delinsTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2284_2288delinsTTAAA MANE Select	ENSP00000220676.1:p.Leu762=
ENST00000636932.1:c.787+3878_787+3882delinsTTAAA	ENSP00000489857.1:n.787+3878_787+3882delinsTTAAA
ENST00000637698.1:c.787+3878_787+3882delinsTTAAA	ENSP00000490104.1:n.787+3878_787+3882delinsTTAAA
ENST00000220676.1:c.2284_2288delinsTTAAA	ENSP00000220676.1:p.Leu762=
NM_006269.1:c.2284_2288delinsTTAAA	NP_006260.1:p.Leu762=
XM_017013721.1:c.2305_2309delinsTTAAA	XP_016869210.1:p.Leu769=
XM_017013722.1:c.2284_2288delinsTTAAA	XP_016869211.1:p.Leu762=
NM_001375654.1:c.787+3878_787+3882delinsTTAAA	NP_001362583.1:n.787+3878_787+3882delinsTTAAA
NM_006269.2:c.2284_2288delinsTTAAA MANE Select	NP_006260.1:p.Leu762=