Canonical Allele Identifier: CA2780387038

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627672_54627683del , CM000670.2:g.54627672_54627683del	GRCh38
NC_000008.10:g.55540232_55540243del , CM000670.1:g.55540232_55540243del	GRCh37
NC_000008.9:g.55702785_55702796del	NCBI36
NG_009840.1:g.16606_16617del
NG_009840.2:g.16606_16617del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.3790_3801del MANE Select	ENSP00000220676.1:p.Val1264_Ala1267del
ENST00000636932.1:c.787+5384_787+5395del	ENSP00000489857.1:n.787+5384_787+5395del
ENST00000637698.1:c.787+5384_787+5395del	ENSP00000490104.1:n.787+5384_787+5395del
ENST00000220676.1:c.3790_3801del	ENSP00000220676.1:p.Val1264_Ala1267del
NM_006269.1:c.3790_3801del	NP_006260.1:p.Val1264_Ala1267del
XM_017013721.1:c.3811_3822del	XP_016869210.1:p.Val1271_Ala1274del
XM_017013722.1:c.3790_3801del	XP_016869211.1:p.Val1264_Ala1267del
NM_001375654.1:c.787+5384_787+5395del	NP_001362583.1:n.787+5384_787+5395del
NM_006269.2:c.3790_3801del MANE Select	NP_006260.1:p.Val1264_Ala1267del