Canonical Allele Identifier: CA1785188891

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627796_54627802delinsTTACTGA , CM000670.2:g.54627796_54627802delinsTTACTGA	GRCh38
NC_000008.10:g.55540356_55540362delinsTTACTGA , CM000670.1:g.55540356_55540362delinsTTACTGA	GRCh37
NC_000008.9:g.55702909_55702915delinsTTACTGA	NCBI36
NG_009840.1:g.16730_16736delinsTTACTGA
NG_009840.2:g.16730_16736delinsTTACTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3914_3920delinsTTACTGA MANE Select	ENSP00000220676.1:p.Leu1305=
ENST00000636932.1:c.787+5508_787+5514delinsTTACTGA	ENSP00000489857.1:n.787+5508_787+5514delinsTTACTGA
ENST00000637698.1:c.787+5508_787+5514delinsTTACTGA	ENSP00000490104.1:n.787+5508_787+5514delinsTTACTGA
ENST00000220676.1:c.3914_3920delinsTTACTGA	ENSP00000220676.1:p.Leu1305=
NM_006269.1:c.3914_3920delinsTTACTGA	NP_006260.1:p.Leu1305=
XM_017013721.1:c.3935_3941delinsTTACTGA	XP_016869210.1:p.Leu1312=
XM_017013722.1:c.3914_3920delinsTTACTGA	XP_016869211.1:p.Leu1305=
NM_001375654.1:c.787+5508_787+5514delinsTTACTGA	NP_001362583.1:n.787+5508_787+5514delinsTTACTGA
NM_006269.2:c.3914_3920delinsTTACTGA MANE Select	NP_006260.1:p.Leu1305=