Canonical Allele Identifier: CA2579168463

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54628177dup , CM000670.2:g.54628177dup	GRCh38
NC_000008.10:g.55540737dup , CM000670.1:g.55540737dup	GRCh37
NC_000008.9:g.55703290dup	NCBI36
NG_009840.1:g.17111dup
NG_009840.2:g.17111dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4295dup MANE Select	ENSP00000220676.1:p.Asn1432LysfsTer7
ENST00000636932.1:c.787+5889dup	ENSP00000489857.1:n.787+5889dup
ENST00000637698.1:c.787+5889dup	ENSP00000490104.1:n.787+5889dup
ENST00000220676.1:c.4295dup	ENSP00000220676.1:p.Asn1432LysfsTer7
NM_006269.1:c.4295dup	NP_006260.1:p.Asn1432LysfsTer7
XM_017013721.1:c.4316dup	XP_016869210.1:p.Asn1439LysfsTer7
XM_017013722.1:c.4295dup	XP_016869211.1:p.Asn1432LysfsTer7
NM_001375654.1:c.787+5889dup	NP_001362583.1:n.787+5889dup
NM_006269.2:c.4295dup MANE Select	NP_006260.1:p.Asn1432LysfsTer7