Canonical Allele Identifier: CA1785189073

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628185_54628189delinsACTTC , CM000670.2:g.54628185_54628189delinsACTTC	GRCh38
NC_000008.10:g.55540745_55540749delinsACTTC , CM000670.1:g.55540745_55540749delinsACTTC	GRCh37
NC_000008.9:g.55703298_55703302delinsACTTC	NCBI36
NG_009840.1:g.17119_17123delinsACTTC
NG_009840.2:g.17119_17123delinsACTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4303_4307delinsACTTC MANE Select	ENSP00000220676.1:p.Thr1435=
ENST00000636932.1:c.787+5897_787+5901delinsACTTC	ENSP00000489857.1:n.787+5897_787+5901delinsACTTC
ENST00000637698.1:c.787+5897_787+5901delinsACTTC	ENSP00000490104.1:n.787+5897_787+5901delinsACTTC
ENST00000220676.1:c.4303_4307delinsACTTC	ENSP00000220676.1:p.Thr1435=
NM_006269.1:c.4303_4307delinsACTTC	NP_006260.1:p.Thr1435=
XM_017013721.1:c.4324_4328delinsACTTC	XP_016869210.1:p.Thr1442=
XM_017013722.1:c.4303_4307delinsACTTC	XP_016869211.1:p.Thr1435=
NM_001375654.1:c.787+5897_787+5901delinsACTTC	NP_001362583.1:n.787+5897_787+5901delinsACTTC
NM_006269.2:c.4303_4307delinsACTTC MANE Select	NP_006260.1:p.Thr1435=