Canonical Allele Identifier: CA1785189043

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628122_54628124delinsCAT , CM000670.2:g.54628122_54628124delinsCAT	GRCh38
NC_000008.10:g.55540682_55540684delinsCAT , CM000670.1:g.55540682_55540684delinsCAT	GRCh37
NC_000008.9:g.55703235_55703237delinsCAT	NCBI36
NG_009840.1:g.17056_17058delinsCAT
NG_009840.2:g.17056_17058delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4240_4242delinsCAT MANE Select	ENSP00000220676.1:p.His1414=
ENST00000636932.1:c.787+5834_787+5836delinsCAT	ENSP00000489857.1:n.787+5834_787+5836delinsCAT
ENST00000637698.1:c.787+5834_787+5836delinsCAT	ENSP00000490104.1:n.787+5834_787+5836delinsCAT
ENST00000220676.1:c.4240_4242delinsCAT	ENSP00000220676.1:p.His1414=
NM_006269.1:c.4240_4242delinsCAT	NP_006260.1:p.His1414=
XM_017013721.1:c.4261_4263delinsCAT	XP_016869210.1:p.His1421=
XM_017013722.1:c.4240_4242delinsCAT	XP_016869211.1:p.His1414=
NM_001375654.1:c.787+5834_787+5836delinsCAT	NP_001362583.1:n.787+5834_787+5836delinsCAT
NM_006269.2:c.4240_4242delinsCAT MANE Select	NP_006260.1:p.His1414=