Canonical Allele Identifier: CA2780387014

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626206_54626207insA , CM000670.2:g.54626206_54626207insA	GRCh38
NC_000008.10:g.55538766_55538767insA , CM000670.1:g.55538766_55538767insA	GRCh37
NC_000008.9:g.55701319_55701320insA	NCBI36
NG_009840.1:g.15140_15141insA
NG_009840.2:g.15140_15141insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2324_2325insA MANE Select	ENSP00000220676.1:p.Lys776GlnfsTer5
ENST00000636932.1:c.787+3918_787+3919insA	ENSP00000489857.1:n.787+3918_787+3919insA
ENST00000637698.1:c.787+3918_787+3919insA	ENSP00000490104.1:n.787+3918_787+3919insA
ENST00000220676.1:c.2324_2325insA	ENSP00000220676.1:p.Lys776GlnfsTer5
NM_006269.1:c.2324_2325insA	NP_006260.1:p.Lys776GlnfsTer5
XM_017013721.1:c.2345_2346insA	XP_016869210.1:p.Lys783GlnfsTer5
XM_017013722.1:c.2324_2325insA	XP_016869211.1:p.Lys776GlnfsTer5
NM_001375654.1:c.787+3918_787+3919insA	NP_001362583.1:n.787+3918_787+3919insA
NM_006269.2:c.2324_2325insA MANE Select	NP_006260.1:p.Lys776GlnfsTer5