Canonical Allele Identifier: CA658821501
Gene: RP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547180
ClinVar RCV Id: RCV000659269 RCV003679012
dbSNP Id: rs1554519422
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54625149_54625538delinsA , CM000670.2:g.54625149_54625538delinsA GRCh38
NC_000008.10:g.55537709_55538098delinsA , CM000670.1:g.55537709_55538098delinsA GRCh37
NC_000008.9:g.55700262_55700651delinsA NCBI36
NG_009840.1:g.14083_14472delinsA
NG_009840.2:g.14083_14472delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000220676.2:c.1267_1656delinsA MANE Select ENSP00000220676.1:p.Ala423AsnfsTer11
ENST00000636932.1:c.787+2861_787+3250delinsA ENSP00000489857.1:n.787+2861_787+3250delinsA
ENST00000637698.1:c.787+2861_787+3250delinsA ENSP00000490104.1:n.787+2861_787+3250delinsA
ENST00000220676.1:c.1267_1656delinsA ENSP00000220676.1:p.Ala423AsnfsTer11
NM_006269.1:c.1267_1656delinsA NP_006260.1:p.Ala423AsnfsTer11
XM_017013721.1:c.1288_1677delinsA XP_016869210.1:p.Ala430AsnfsTer11
XM_017013722.1:c.1267_1656delinsA XP_016869211.1:p.Ala423AsnfsTer11
NM_001375654.1:c.787+2861_787+3250delinsA NP_001362583.1:n.787+2861_787+3250delinsA
NM_006269.2:c.1267_1656delinsA MANE Select NP_006260.1:p.Ala423AsnfsTer11
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