Canonical Allele Identifier: CA341246
Gene: RPS17 HGNC NCBI

Linked Data

ClinVar Variation Id: 13000
ClinVar RCV Id: RCV000013874
dbSNP Id: rs116840812
MyVariant Identifiers: chr15:g.82823348_82823349del (hg19) chr15:g.82538940_82538941del (hg38)
PubMed: PMID:19061985 PMID:20301769
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.82538941_82538942del , CM000677.2:g.82538941_82538942del GRCh38
NC_000015.9:g.82823349_82823350del , CM000677.1:g.82823349_82823350del GRCh37
NC_000015.8:g.80610404_80610405del NCBI36
NG_009890.1:g.6298_6299del
NG_009890.2:g.6605_6606del

Transcript Alleles

HGVS Amino-acid change
ENST00000560229.6:n.523_524del
ENST00000562833.2:c.1548_1549del ENSP00000454786.2:p.Gly517TyrfsTer19
ENST00000642270.1:c.1555_1556del ENSP00000496443.1:n.1555_1556del
ENST00000647841.1:c.201_202del MANE Select ENSP00000498019.1:p.Gly68TyrfsTer19
ENST00000330244.10:c.201_202del ENSP00000346046.5:p.Gly68TyrfsTer19
ENST00000558397.1:c.201_202del ENSP00000452889.1:p.Gly68TyrfsTer19
ENST00000559776.1:n.485_486del
ENST00000560229.5:n.523_524del
ENST00000560612.1:n.208_209del
ENST00000560639.1:n.225_226del
ENST00000561068.5:c.273_274del
ENST00000561157.5:c.201_202del ENSP00000453910.1:p.Gly68TyrfsTer19
ENST00000561440.1:n.1194_1195del
NM_001021.4:c.201_202del NP_001012.1:p.Gly68TyrfsTer19
NR_111943.1:n.523_524del
NR_111944.1:n.317_318del
NM_001021.6:c.201_202del MANE Select NP_001012.1:p.Gly68TyrfsTer19
NR_111944.2:n.337_338del
NR_111943.2:n.523_524del
NR_111944.3:n.230_231del
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