Canonical Allele Identifier: CA1785188301

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626391_54626392delinsCA , CM000670.2:g.54626391_54626392delinsCA	GRCh38
NC_000008.10:g.55538951_55538952delinsCA , CM000670.1:g.55538951_55538952delinsCA	GRCh37
NC_000008.9:g.55701504_55701505delinsCA	NCBI36
NG_009840.1:g.15325_15326delinsCA
NG_009840.2:g.15325_15326delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2509_2510delinsCA MANE Select	ENSP00000220676.1:p.Gln837=
ENST00000636932.1:c.787+4103_787+4104delinsCA	ENSP00000489857.1:n.787+4103_787+4104delinsCA
ENST00000637698.1:c.787+4103_787+4104delinsCA	ENSP00000490104.1:n.787+4103_787+4104delinsCA
ENST00000220676.1:c.2509_2510delinsCA	ENSP00000220676.1:p.Gln837=
NM_006269.1:c.2509_2510delinsCA	NP_006260.1:p.Gln837=
XM_017013721.1:c.2530_2531delinsCA	XP_016869210.1:p.Gln844=
XM_017013722.1:c.2509_2510delinsCA	XP_016869211.1:p.Gln837=
NM_001375654.1:c.787+4103_787+4104delinsCA	NP_001362583.1:n.787+4103_787+4104delinsCA
NM_006269.2:c.2509_2510delinsCA MANE Select	NP_006260.1:p.Gln837=