Canonical Allele Identifier: CA2695209281

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626187_54626199del , CM000670.2:g.54626187_54626199del	GRCh38
NC_000008.10:g.55538747_55538759del , CM000670.1:g.55538747_55538759del	GRCh37
NC_000008.9:g.55701300_55701312del	NCBI36
NG_009840.1:g.15121_15133del
NG_009840.2:g.15121_15133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2305_2317del MANE Select	ENSP00000220676.1:p.Lys769PhefsTer2
ENST00000636932.1:c.787+3899_787+3911del	ENSP00000489857.1:n.787+3899_787+3911del
ENST00000637698.1:c.787+3899_787+3911del	ENSP00000490104.1:n.787+3899_787+3911del
ENST00000220676.1:c.2305_2317del	ENSP00000220676.1:p.Lys769PhefsTer2
NM_006269.1:c.2305_2317del	NP_006260.1:p.Lys769PhefsTer2
XM_017013721.1:c.2326_2338del	XP_016869210.1:p.Lys776PhefsTer2
XM_017013722.1:c.2305_2317del	XP_016869211.1:p.Lys769PhefsTer2
NM_001375654.1:c.787+3899_787+3911del	NP_001362583.1:n.787+3899_787+3911del
NM_006269.2:c.2305_2317del MANE Select	NP_006260.1:p.Lys769PhefsTer2