Canonical Allele Identifier: CA2695209271

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626081_54626082del , CM000670.2:g.54626081_54626082del	GRCh38
NC_000008.10:g.55538641_55538642del , CM000670.1:g.55538641_55538642del	GRCh37
NC_000008.9:g.55701194_55701195del	NCBI36
NG_009840.1:g.15015_15016del
NG_009840.2:g.15015_15016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2199_2200del MANE Select	ENSP00000220676.1:p.Ser734Ter
ENST00000636932.1:c.787+3793_787+3794del	ENSP00000489857.1:n.787+3793_787+3794del
ENST00000637698.1:c.787+3793_787+3794del	ENSP00000490104.1:n.787+3793_787+3794del
ENST00000220676.1:c.2199_2200del	ENSP00000220676.1:p.Ser734Ter
NM_006269.1:c.2199_2200del	NP_006260.1:p.Ser734Ter
XM_017013721.1:c.2220_2221del	XP_016869210.1:p.Ser741Ter
XM_017013722.1:c.2199_2200del	XP_016869211.1:p.Ser734Ter
NM_001375654.1:c.787+3793_787+3794del	NP_001362583.1:n.787+3793_787+3794del
NM_006269.2:c.2199_2200del MANE Select	NP_006260.1:p.Ser734Ter