Canonical Allele Identifier: CA2550508963

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628030_54628031del , CM000670.2:g.54628030_54628031del	GRCh38
NC_000008.10:g.55540590_55540591del , CM000670.1:g.55540590_55540591del	GRCh37
NC_000008.9:g.55703143_55703144del	NCBI36
NG_009840.1:g.16964_16965del
NG_009840.2:g.16964_16965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4148_4149del MANE Select	ENSP00000220676.1:p.Gly1383ValfsTer2
ENST00000636932.1:c.787+5742_787+5743del	ENSP00000489857.1:n.787+5742_787+5743del
ENST00000637698.1:c.787+5742_787+5743del	ENSP00000490104.1:n.787+5742_787+5743del
ENST00000220676.1:c.4148_4149del	ENSP00000220676.1:p.Gly1383ValfsTer2
NM_006269.1:c.4148_4149del	NP_006260.1:p.Gly1383ValfsTer2
XM_017013721.1:c.4169_4170del	XP_016869210.1:p.Gly1390ValfsTer2
XM_017013722.1:c.4148_4149del	XP_016869211.1:p.Gly1383ValfsTer2
NM_001375654.1:c.787+5742_787+5743del	NP_001362583.1:n.787+5742_787+5743del
NM_006269.2:c.4148_4149del MANE Select	NP_006260.1:p.Gly1383ValfsTer2