Canonical Allele Identifier: CA2520510708

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628026_54628027insC , CM000670.2:g.54628026_54628027insC	GRCh38
NC_000008.10:g.55540586_55540587insC , CM000670.1:g.55540586_55540587insC	GRCh37
NC_000008.9:g.55703139_55703140insC	NCBI36
NG_009840.1:g.16960_16961insC
NG_009840.2:g.16960_16961insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4144_4145insC MANE Select	ENSP00000220676.1:p.Asn1382ThrfsTer4
ENST00000636932.1:c.787+5738_787+5739insC	ENSP00000489857.1:n.787+5738_787+5739insC
ENST00000637698.1:c.787+5738_787+5739insC	ENSP00000490104.1:n.787+5738_787+5739insC
ENST00000220676.1:c.4144_4145insC	ENSP00000220676.1:p.Asn1382ThrfsTer4
NM_006269.1:c.4144_4145insC	NP_006260.1:p.Asn1382ThrfsTer4
XM_017013721.1:c.4165_4166insC	XP_016869210.1:p.Asn1389ThrfsTer4
XM_017013722.1:c.4144_4145insC	XP_016869211.1:p.Asn1382ThrfsTer4
NM_001375654.1:c.787+5738_787+5739insC	NP_001362583.1:n.787+5738_787+5739insC
NM_006269.2:c.4144_4145insC MANE Select	NP_006260.1:p.Asn1382ThrfsTer4