Canonical Allele Identifier: CA2780387041

Gene: RP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54627915_54627918del , CM000670.2:g.54627915_54627918del	GRCh38
NC_000008.10:g.55540475_55540478del , CM000670.1:g.55540475_55540478del	GRCh37
NC_000008.9:g.55703028_55703031del	NCBI36
NG_009840.1:g.16849_16852del
NG_009840.2:g.16849_16852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.4033_4036del MANE Select	ENSP00000220676.1:p.Leu1345ThrfsTer17
ENST00000636932.1:c.787+5627_787+5630del	ENSP00000489857.1:n.787+5627_787+5630del
ENST00000637698.1:c.787+5627_787+5630del	ENSP00000490104.1:n.787+5627_787+5630del
ENST00000220676.1:c.4033_4036del	ENSP00000220676.1:p.Leu1345ThrfsTer17
NM_006269.1:c.4033_4036del	NP_006260.1:p.Leu1345ThrfsTer17
XM_017013721.1:c.4054_4057del	XP_016869210.1:p.Leu1352ThrfsTer17
XM_017013722.1:c.4033_4036del	XP_016869211.1:p.Leu1345ThrfsTer17
NM_001375654.1:c.787+5627_787+5630del	NP_001362583.1:n.787+5627_787+5630del
NM_006269.2:c.4033_4036del MANE Select	NP_006260.1:p.Leu1345ThrfsTer17