Canonical Allele Identifier: CA1785188906

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627831_54627832delinsCA , CM000670.2:g.54627831_54627832delinsCA	GRCh38
NC_000008.10:g.55540391_55540392delinsCA , CM000670.1:g.55540391_55540392delinsCA	GRCh37
NC_000008.9:g.55702944_55702945delinsCA	NCBI36
NG_009840.1:g.16765_16766delinsCA
NG_009840.2:g.16765_16766delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3949_3950delinsCA MANE Select	ENSP00000220676.1:p.Gln1317=
ENST00000636932.1:c.787+5543_787+5544delinsCA	ENSP00000489857.1:n.787+5543_787+5544delinsCA
ENST00000637698.1:c.787+5543_787+5544delinsCA	ENSP00000490104.1:n.787+5543_787+5544delinsCA
ENST00000220676.1:c.3949_3950delinsCA	ENSP00000220676.1:p.Gln1317=
NM_006269.1:c.3949_3950delinsCA	NP_006260.1:p.Gln1317=
XM_017013721.1:c.3970_3971delinsCA	XP_016869210.1:p.Gln1324=
XM_017013722.1:c.3949_3950delinsCA	XP_016869211.1:p.Gln1317=
NM_001375654.1:c.787+5543_787+5544delinsCA	NP_001362583.1:n.787+5543_787+5544delinsCA
NM_006269.2:c.3949_3950delinsCA MANE Select	NP_006260.1:p.Gln1317=