Canonical Allele Identifier: CA1785189074
Gene: RP1 HGNC NCBI

Linked Data

dbSNP Id: rs1806132770
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628189_54628192del , CM000670.2:g.54628189_54628192del GRCh38
NC_000008.10:g.55540749_55540752del , CM000670.1:g.55540749_55540752del GRCh37
NC_000008.9:g.55703302_55703305del NCBI36
NG_009840.1:g.17123_17126del
NG_009840.2:g.17123_17126del

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4307_4310del MANE Select ENSP00000220676.1:p.Ser1436LeufsTer15
ENST00000636932.1:c.787+5901_787+5904del ENSP00000489857.1:n.787+5901_787+5904del
ENST00000637698.1:c.787+5901_787+5904del ENSP00000490104.1:n.787+5901_787+5904del
ENST00000220676.1:c.4307_4310del ENSP00000220676.1:p.Ser1436LeufsTer15
NM_006269.1:c.4307_4310del NP_006260.1:p.Ser1436LeufsTer15
XM_017013721.1:c.4328_4331del XP_016869210.1:p.Ser1443LeufsTer15
XM_017013722.1:c.4307_4310del XP_016869211.1:p.Ser1436LeufsTer15
NM_001375654.1:c.787+5901_787+5904del NP_001362583.1:n.787+5901_787+5904del
NM_006269.2:c.4307_4310del MANE Select NP_006260.1:p.Ser1436LeufsTer15
Search 100 bp 5'
Search 100 bp 3'