Canonical Allele Identifier: CA2695209294

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626627_54626631del , CM000670.2:g.54626627_54626631del	GRCh38
NC_000008.10:g.55539187_55539191del , CM000670.1:g.55539187_55539191del	GRCh37
NC_000008.9:g.55701740_55701744del	NCBI36
NG_009840.1:g.15561_15565del
NG_009840.2:g.15561_15565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2745_2749del MANE Select	ENSP00000220676.1:p.Tyr915Ter
ENST00000636932.1:c.787+4339_787+4343del	ENSP00000489857.1:n.787+4339_787+4343del
ENST00000637698.1:c.787+4339_787+4343del	ENSP00000490104.1:n.787+4339_787+4343del
ENST00000220676.1:c.2745_2749del	ENSP00000220676.1:p.Tyr915Ter
NM_006269.1:c.2745_2749del	NP_006260.1:p.Tyr915Ter
XM_017013721.1:c.2766_2770del	XP_016869210.1:p.Tyr922Ter
XM_017013722.1:c.2745_2749del	XP_016869211.1:p.Tyr915Ter
NM_001375654.1:c.787+4339_787+4343del	NP_001362583.1:n.787+4339_787+4343del
NM_006269.2:c.2745_2749del MANE Select	NP_006260.1:p.Tyr915Ter