Canonical Allele Identifier: CA2780387011

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626143_54626144insA , CM000670.2:g.54626143_54626144insA	GRCh38
NC_000008.10:g.55538703_55538704insA , CM000670.1:g.55538703_55538704insA	GRCh37
NC_000008.9:g.55701256_55701257insA	NCBI36
NG_009840.1:g.15077_15078insA
NG_009840.2:g.15077_15078insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2261_2262insA MANE Select	ENSP00000220676.1:p.Lys755GlnfsTer5
ENST00000636932.1:c.787+3855_787+3856insA	ENSP00000489857.1:n.787+3855_787+3856insA
ENST00000637698.1:c.787+3855_787+3856insA	ENSP00000490104.1:n.787+3855_787+3856insA
ENST00000220676.1:c.2261_2262insA	ENSP00000220676.1:p.Lys755GlnfsTer5
NM_006269.1:c.2261_2262insA	NP_006260.1:p.Lys755GlnfsTer5
XM_017013721.1:c.2282_2283insA	XP_016869210.1:p.Lys762GlnfsTer5
XM_017013722.1:c.2261_2262insA	XP_016869211.1:p.Lys755GlnfsTer5
NM_001375654.1:c.787+3855_787+3856insA	NP_001362583.1:n.787+3855_787+3856insA
NM_006269.2:c.2261_2262insA MANE Select	NP_006260.1:p.Lys755GlnfsTer5