Canonical Allele Identifier: CA645560585
Gene: RP1 HGNC NCBI

Linked Data

COSMIC: COSM301426
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628227_54628228delinsTT , CM000670.2:g.54628227_54628228delinsTT GRCh38
NC_000008.10:g.55540787_55540788delinsTT , CM000670.1:g.55540787_55540788delinsTT GRCh37
NC_000008.9:g.55703340_55703341delinsTT NCBI36
NG_009840.1:g.17161_17162delinsTT
NG_009840.2:g.17161_17162delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4345_4346delinsTT MANE Select ENSP00000220676.1:p.Gly1449Phe
ENST00000636932.1:c.787+5939_787+5940delinsTT ENSP00000489857.1:n.787+5939_787+5940delinsTT
ENST00000637698.1:c.787+5939_787+5940delinsTT ENSP00000490104.1:n.787+5939_787+5940delinsTT
ENST00000220676.1:c.4345_4346delinsTT ENSP00000220676.1:p.Gly1449Phe
NM_006269.1:c.4345_4346delinsTT NP_006260.1:p.Gly1449Phe
XM_017013721.1:c.4366_4367delinsTT XP_016869210.1:p.Gly1456Phe
XM_017013722.1:c.4345_4346delinsTT XP_016869211.1:p.Gly1449Phe
NM_001375654.1:c.787+5939_787+5940delinsTT NP_001362583.1:n.787+5939_787+5940delinsTT
NM_006269.2:c.4345_4346delinsTT MANE Select NP_006260.1:p.Gly1449Phe
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