Canonical Allele Identifier: CA2695209278

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626170del , CM000670.2:g.54626170del	GRCh38
NC_000008.10:g.55538730del , CM000670.1:g.55538730del	GRCh37
NC_000008.9:g.55701283del	NCBI36
NG_009840.1:g.15104del
NG_009840.2:g.15104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2288del MANE Select	ENSP00000220676.1:p.Asn763IlefsTer12
ENST00000636932.1:c.787+3882del	ENSP00000489857.1:n.787+3882del
ENST00000637698.1:c.787+3882del	ENSP00000490104.1:n.787+3882del
ENST00000220676.1:c.2288del	ENSP00000220676.1:p.Asn763IlefsTer12
NM_006269.1:c.2288del	NP_006260.1:p.Asn763IlefsTer12
XM_017013721.1:c.2309del	XP_016869210.1:p.Asn770IlefsTer12
XM_017013722.1:c.2288del	XP_016869211.1:p.Asn763IlefsTer12
NM_001375654.1:c.787+3882del	NP_001362583.1:n.787+3882del
NM_006269.2:c.2288del MANE Select	NP_006260.1:p.Asn763IlefsTer12