Canonical Allele Identifier: CA1785189033

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628097_54628101delinsAAAAG , CM000670.2:g.54628097_54628101delinsAAAAG	GRCh38
NC_000008.10:g.55540657_55540661delinsAAAAG , CM000670.1:g.55540657_55540661delinsAAAAG	GRCh37
NC_000008.9:g.55703210_55703214delinsAAAAG	NCBI36
NG_009840.1:g.17031_17035delinsAAAAG
NG_009840.2:g.17031_17035delinsAAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000220676.2:c.4215_4219delinsAAAAG MANE Select	ENSP00000220676.1:p.Glu1405=
ENST00000636932.1:c.787+5809_787+5813delinsAAAAG	ENSP00000489857.1:n.787+5809_787+5813delinsAAAAG
ENST00000637698.1:c.787+5809_787+5813delinsAAAAG	ENSP00000490104.1:n.787+5809_787+5813delinsAAAAG
ENST00000220676.1:c.4215_4219delinsAAAAG	ENSP00000220676.1:p.Glu1405=
NM_006269.1:c.4215_4219delinsAAAAG	NP_006260.1:p.Glu1405=
XM_017013721.1:c.4236_4240delinsAAAAG	XP_016869210.1:p.Glu1412=
XM_017013722.1:c.4215_4219delinsAAAAG	XP_016869211.1:p.Glu1405=
NM_001375654.1:c.787+5809_787+5813delinsAAAAG	NP_001362583.1:n.787+5809_787+5813delinsAAAAG
NM_006269.2:c.4215_4219delinsAAAAG MANE Select	NP_006260.1:p.Glu1405=