Canonical Allele Identifier: CA2695209306

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628050_54628051insT , CM000670.2:g.54628050_54628051insT	GRCh38
NC_000008.10:g.55540610_55540611insT , CM000670.1:g.55540610_55540611insT	GRCh37
NC_000008.9:g.55703163_55703164insT	NCBI36
NG_009840.1:g.16984_16985insT
NG_009840.2:g.16984_16985insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4168_4169insT MANE Select	ENSP00000220676.1:p.His1390LeufsTer6
ENST00000636932.1:c.787+5762_787+5763insT	ENSP00000489857.1:n.787+5762_787+5763insT
ENST00000637698.1:c.787+5762_787+5763insT	ENSP00000490104.1:n.787+5762_787+5763insT
ENST00000220676.1:c.4168_4169insT	ENSP00000220676.1:p.His1390LeufsTer6
NM_006269.1:c.4168_4169insT	NP_006260.1:p.His1390LeufsTer6
XM_017013721.1:c.4189_4190insT	XP_016869210.1:p.His1397LeufsTer6
XM_017013722.1:c.4168_4169insT	XP_016869211.1:p.His1390LeufsTer6
NM_001375654.1:c.787+5762_787+5763insT	NP_001362583.1:n.787+5762_787+5763insT
NM_006269.2:c.4168_4169insT MANE Select	NP_006260.1:p.His1390LeufsTer6