Canonical Allele Identifier: CA2567508716

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626127_54626129del , CM000670.2:g.54626127_54626129del	GRCh38
NC_000008.10:g.55538687_55538689del , CM000670.1:g.55538687_55538689del	GRCh37
NC_000008.9:g.55701240_55701242del	NCBI36
NG_009840.1:g.15061_15063del
NG_009840.2:g.15061_15063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2245_2247del MANE Select	ENSP00000220676.1:p.Leu749del
ENST00000636932.1:c.787+3839_787+3841del	ENSP00000489857.1:n.787+3839_787+3841del
ENST00000637698.1:c.787+3839_787+3841del	ENSP00000490104.1:n.787+3839_787+3841del
ENST00000220676.1:c.2245_2247del	ENSP00000220676.1:p.Leu749del
NM_006269.1:c.2245_2247del	NP_006260.1:p.Leu749del
XM_017013721.1:c.2266_2268del	XP_016869210.1:p.Leu756del
XM_017013722.1:c.2245_2247del	XP_016869211.1:p.Leu749del
NM_001375654.1:c.787+3839_787+3841del	NP_001362583.1:n.787+3839_787+3841del
NM_006269.2:c.2245_2247del MANE Select	NP_006260.1:p.Leu749del