Canonical Allele Identifier: CA4752156

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54629844dup , CM000670.2:g.54629844dup	GRCh38
NC_000008.10:g.55542404dup , CM000670.1:g.55542404dup	GRCh37
NC_000008.9:g.55704957dup	NCBI36
NG_009840.1:g.18778dup
NG_009840.2:g.18778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.5962dup MANE Select	ENSP00000220676.1:p.Ile1988AsnfsTer3
ENST00000636932.1:c.787+7556dup	ENSP00000489857.1:n.787+7556dup
ENST00000637698.1:c.787+7556dup	ENSP00000490104.1:n.787+7556dup
ENST00000220676.1:c.5962dup	ENSP00000220676.1:p.Ile1988AsnfsTer3
NM_006269.1:c.5962dup	NP_006260.1:p.Ile1988AsnfsTer3
XM_017013721.1:c.5983dup	XP_016869210.1:p.Ile1995AsnfsTer3
XM_017013722.1:c.5962dup	XP_016869211.1:p.Ile1988AsnfsTer3
NM_001375654.1:c.787+7556dup	NP_001362583.1:n.787+7556dup
NM_006269.2:c.5962dup MANE Select	NP_006260.1:p.Ile1988AsnfsTer3