Canonical Allele Identifier: CA645560584
Gene: RP1 HGNC NCBI

Linked Data

COSMIC: COSM4517810
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628189_54628190delinsTT , CM000670.2:g.54628189_54628190delinsTT GRCh38
NC_000008.10:g.55540749_55540750delinsTT , CM000670.1:g.55540749_55540750delinsTT GRCh37
NC_000008.9:g.55703302_55703303delinsTT NCBI36
NG_009840.1:g.17123_17124delinsTT
NG_009840.2:g.17123_17124delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4307_4308delinsTT MANE Select ENSP00000220676.1:p.Ser1436Phe
ENST00000636932.1:c.787+5901_787+5902delinsTT ENSP00000489857.1:n.787+5901_787+5902delinsTT
ENST00000637698.1:c.787+5901_787+5902delinsTT ENSP00000490104.1:n.787+5901_787+5902delinsTT
ENST00000220676.1:c.4307_4308delinsTT ENSP00000220676.1:p.Ser1436Phe
NM_006269.1:c.4307_4308delinsTT NP_006260.1:p.Ser1436Phe
XM_017013721.1:c.4328_4329delinsTT XP_016869210.1:p.Ser1443Phe
XM_017013722.1:c.4307_4308delinsTT XP_016869211.1:p.Ser1436Phe
NM_001375654.1:c.787+5901_787+5902delinsTT NP_001362583.1:n.787+5901_787+5902delinsTT
NM_006269.2:c.4307_4308delinsTT MANE Select NP_006260.1:p.Ser1436Phe
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