Canonical Allele Identifier: CA1785188985

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628012_54628015delinsACCC , CM000670.2:g.54628012_54628015delinsACCC	GRCh38
NC_000008.10:g.55540572_55540575delinsACCC , CM000670.1:g.55540572_55540575delinsACCC	GRCh37
NC_000008.9:g.55703125_55703128delinsACCC	NCBI36
NG_009840.1:g.16946_16949delinsACCC
NG_009840.2:g.16946_16949delinsACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4130_4133delinsACCC MANE Select	ENSP00000220676.1:p.Asp1377=
ENST00000636932.1:c.787+5724_787+5727delinsACCC	ENSP00000489857.1:n.787+5724_787+5727delinsACCC
ENST00000637698.1:c.787+5724_787+5727delinsACCC	ENSP00000490104.1:n.787+5724_787+5727delinsACCC
ENST00000220676.1:c.4130_4133delinsACCC	ENSP00000220676.1:p.Asp1377=
NM_006269.1:c.4130_4133delinsACCC	NP_006260.1:p.Asp1377=
XM_017013721.1:c.4151_4154delinsACCC	XP_016869210.1:p.Asp1384=
XM_017013722.1:c.4130_4133delinsACCC	XP_016869211.1:p.Asp1377=
NM_001375654.1:c.787+5724_787+5727delinsACCC	NP_001362583.1:n.787+5724_787+5727delinsACCC
NM_006269.2:c.4130_4133delinsACCC MANE Select	NP_006260.1:p.Asp1377=