Canonical Allele Identifier: CA2780387010

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626141_54626145del , CM000670.2:g.54626141_54626145del	GRCh38
NC_000008.10:g.55538701_55538705del , CM000670.1:g.55538701_55538705del	GRCh37
NC_000008.9:g.55701254_55701258del	NCBI36
NG_009840.1:g.15075_15079del
NG_009840.2:g.15075_15079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2259_2263del MANE Select	ENSP00000220676.1:p.Ser754GlufsTer4
ENST00000636932.1:c.787+3853_787+3857del	ENSP00000489857.1:n.787+3853_787+3857del
ENST00000637698.1:c.787+3853_787+3857del	ENSP00000490104.1:n.787+3853_787+3857del
ENST00000220676.1:c.2259_2263del	ENSP00000220676.1:p.Ser754GlufsTer4
NM_006269.1:c.2259_2263del	NP_006260.1:p.Ser754GlufsTer4
XM_017013721.1:c.2280_2284del	XP_016869210.1:p.Ser761GlufsTer4
XM_017013722.1:c.2259_2263del	XP_016869211.1:p.Ser754GlufsTer4
NM_001375654.1:c.787+3853_787+3857del	NP_001362583.1:n.787+3853_787+3857del
NM_006269.2:c.2259_2263del MANE Select	NP_006260.1:p.Ser754GlufsTer4