Canonical Allele Identifier: CA2695209308

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628188del , CM000670.2:g.54628188del	GRCh38
NC_000008.10:g.55540748del , CM000670.1:g.55540748del	GRCh37
NC_000008.9:g.55703301del	NCBI36
NG_009840.1:g.17122del
NG_009840.2:g.17122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4306del MANE Select	ENSP00000220676.1:p.Ser1436ProfsTer16
ENST00000636932.1:c.787+5900del	ENSP00000489857.1:n.787+5900del
ENST00000637698.1:c.787+5900del	ENSP00000490104.1:n.787+5900del
ENST00000220676.1:c.4306del	ENSP00000220676.1:p.Ser1436ProfsTer16
NM_006269.1:c.4306del	NP_006260.1:p.Ser1436ProfsTer16
XM_017013721.1:c.4327del	XP_016869210.1:p.Ser1443ProfsTer16
XM_017013722.1:c.4306del	XP_016869211.1:p.Ser1436ProfsTer16
NM_001375654.1:c.787+5900del	NP_001362583.1:n.787+5900del
NM_006269.2:c.4306del MANE Select	NP_006260.1:p.Ser1436ProfsTer16