Canonical Allele Identifier: CA2843341841

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54625558_54625559insTACT , CM000670.2:g.54625558_54625559insTACT	GRCh38
NC_000008.10:g.55538118_55538119insTACT , CM000670.1:g.55538118_55538119insTACT	GRCh37
NC_000008.9:g.55700671_55700672insTACT	NCBI36
NG_009840.1:g.14492_14493insTACT
NG_009840.2:g.14492_14493insTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.1676_1677insTACT MANE Select	ENSP00000220676.1:p.Glu559AspfsTer6
ENST00000636932.1:c.787+3270_787+3271insTACT	ENSP00000489857.1:n.787+3270_787+3271insTACT
ENST00000637698.1:c.787+3270_787+3271insTACT	ENSP00000490104.1:n.787+3270_787+3271insTACT
ENST00000220676.1:c.1676_1677insTACT	ENSP00000220676.1:p.Glu559AspfsTer6
NM_006269.1:c.1676_1677insTACT	NP_006260.1:p.Glu559AspfsTer6
XM_017013721.1:c.1697_1698insTACT	XP_016869210.1:p.Glu566AspfsTer6
XM_017013722.1:c.1676_1677insTACT	XP_016869211.1:p.Glu559AspfsTer6
NM_001375654.1:c.787+3270_787+3271insTACT	NP_001362583.1:n.787+3270_787+3271insTACT
NM_006269.2:c.1676_1677insTACT MANE Select	NP_006260.1:p.Glu559AspfsTer6