Canonical Allele Identifier: CA2695209305

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628011del , CM000670.2:g.54628011del	GRCh38
NC_000008.10:g.55540571del , CM000670.1:g.55540571del	GRCh37
NC_000008.9:g.55703124del	NCBI36
NG_009840.1:g.16945del
NG_009840.2:g.16945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4129del MANE Select	ENSP00000220676.1:p.Asp1377ThrfsTer20
ENST00000636932.1:c.787+5723del	ENSP00000489857.1:n.787+5723del
ENST00000637698.1:c.787+5723del	ENSP00000490104.1:n.787+5723del
ENST00000220676.1:c.4129del	ENSP00000220676.1:p.Asp1377ThrfsTer20
NM_006269.1:c.4129del	NP_006260.1:p.Asp1377ThrfsTer20
XM_017013721.1:c.4150del	XP_016869210.1:p.Asp1384ThrfsTer20
XM_017013722.1:c.4129del	XP_016869211.1:p.Asp1377ThrfsTer20
NM_001375654.1:c.787+5723del	NP_001362583.1:n.787+5723del
NM_006269.2:c.4129del MANE Select	NP_006260.1:p.Asp1377ThrfsTer20