Canonical Allele Identifier: CA2780387037

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627618del , CM000670.2:g.54627618del	GRCh38
NC_000008.10:g.55540178del , CM000670.1:g.55540178del	GRCh37
NC_000008.9:g.55702731del	NCBI36
NG_009840.1:g.16552del
NG_009840.2:g.16552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3736del MANE Select	ENSP00000220676.1:p.Ala1246ProfsTer9
ENST00000636932.1:c.787+5330del	ENSP00000489857.1:n.787+5330del
ENST00000637698.1:c.787+5330del	ENSP00000490104.1:n.787+5330del
ENST00000220676.1:c.3736del	ENSP00000220676.1:p.Ala1246ProfsTer9
NM_006269.1:c.3736del	NP_006260.1:p.Ala1246ProfsTer9
XM_017013721.1:c.3757del	XP_016869210.1:p.Ala1253ProfsTer9
XM_017013722.1:c.3736del	XP_016869211.1:p.Ala1246ProfsTer9
NM_001375654.1:c.787+5330del	NP_001362583.1:n.787+5330del
NM_006269.2:c.3736del MANE Select	NP_006260.1:p.Ala1246ProfsTer9