Canonical Allele Identifier: CA1785188302

Gene: RP1

Linked Data

• dbSNP Id: rs1806050217

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626393del , CM000670.2:g.54626393del	GRCh38
NC_000008.10:g.55538953del , CM000670.1:g.55538953del	GRCh37
NC_000008.9:g.55701506del	NCBI36
NG_009840.1:g.15327del
NG_009840.2:g.15327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2511del MANE Select	ENSP00000220676.1:p.Gln837HisfsTer11
ENST00000636932.1:c.787+4105del	ENSP00000489857.1:n.787+4105del
ENST00000637698.1:c.787+4105del	ENSP00000490104.1:n.787+4105del
ENST00000220676.1:c.2511del	ENSP00000220676.1:p.Gln837HisfsTer11
NM_006269.1:c.2511del	NP_006260.1:p.Gln837HisfsTer11
XM_017013721.1:c.2532del	XP_016869210.1:p.Gln844HisfsTer11
XM_017013722.1:c.2511del	XP_016869211.1:p.Gln837HisfsTer11
NM_001375654.1:c.787+4105del	NP_001362583.1:n.787+4105del
NM_006269.2:c.2511del MANE Select	NP_006260.1:p.Gln837HisfsTer11