Canonical Allele Identifier: CA1139660542
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 813216
ClinVar RCV Id: RCV001199750
dbSNP Id: rs1806128576
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54628100_54628103del , CM000670.2:g.54628100_54628103del GRCh38
NC_000008.10:g.55540660_55540663del , CM000670.1:g.55540660_55540663del GRCh37
NC_000008.9:g.55703213_55703216del NCBI36
NG_009840.1:g.17034_17037del
NG_009840.2:g.17034_17037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.4218_4221del MANE Select ENSP00000220676.1:p.Glu1407GlnfsTer10
ENST00000636932.1:c.787+5812_787+5815del ENSP00000489857.1:n.787+5812_787+5815del
ENST00000637698.1:c.787+5812_787+5815del ENSP00000490104.1:n.787+5812_787+5815del
ENST00000220676.1:c.4218_4221del ENSP00000220676.1:p.Glu1407GlnfsTer10
NM_006269.1:c.4218_4221del NP_006260.1:p.Glu1407GlnfsTer10
XM_017013721.1:c.4239_4242del XP_016869210.1:p.Glu1414GlnfsTer10
XM_017013722.1:c.4218_4221del XP_016869211.1:p.Glu1407GlnfsTer10
NM_001375654.1:c.787+5812_787+5815del NP_001362583.1:n.787+5812_787+5815del
NM_006269.2:c.4218_4221del MANE Select NP_006260.1:p.Glu1407GlnfsTer10
Search 100 bp 5'
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