Canonical Allele Identifier: CA2695209276

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626127_54626130delinsTGAG , CM000670.2:g.54626127_54626130delinsTGAG	GRCh38
NC_000008.10:g.55538687_55538690delinsTGAG , CM000670.1:g.55538687_55538690delinsTGAG	GRCh37
NC_000008.9:g.55701240_55701243delinsTGAG	NCBI36
NG_009840.1:g.15061_15064delinsTGAG
NG_009840.2:g.15061_15064delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2245_2248delinsTGAG MANE Select	ENSP00000220676.1:p.Leu749Ter
ENST00000636932.1:c.787+3839_787+3842delinsTGAG	ENSP00000489857.1:n.787+3839_787+3842delinsTGAG
ENST00000637698.1:c.787+3839_787+3842delinsTGAG	ENSP00000490104.1:n.787+3839_787+3842delinsTGAG
ENST00000220676.1:c.2245_2248delinsTGAG	ENSP00000220676.1:p.Leu749Ter
NM_006269.1:c.2245_2248delinsTGAG	NP_006260.1:p.Leu749Ter
XM_017013721.1:c.2266_2269delinsTGAG	XP_016869210.1:p.Leu756Ter
XM_017013722.1:c.2245_2248delinsTGAG	XP_016869211.1:p.Leu749Ter
NM_001375654.1:c.787+3839_787+3842delinsTGAG	NP_001362583.1:n.787+3839_787+3842delinsTGAG
NM_006269.2:c.2245_2248delinsTGAG MANE Select	NP_006260.1:p.Leu749Ter