Canonical Allele Identifier: CA175024
Gene: PLK4 HGNC NCBI

Linked Data

ClinVar Variation Id: 162401
ClinVar RCV Id: RCV000149796 RCV001384442
dbSNP Id: rs724159996
ExAC: 4:128807823 TTAAAG / T
gnomAD v2: 4-128807823-TTAAAG-T
gnomAD v3: 4-127886668-TTAAAG-T
gnomAD v4: 4-127886668-TTAAAG-T
MyVariant Identifiers: chr4:g.128807824_128807828del (hg19) chr4:g.127886669_127886673del (hg38)
PubMed: PMID:25344692
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.127886669_127886673del , CM000666.2:g.127886669_127886673del GRCh38
NC_000004.11:g.128807824_128807828del , CM000666.1:g.128807824_128807828del GRCh37
NC_000004.10:g.129027274_129027278del NCBI36
NG_041821.1:g.10809_10813del

Transcript Alleles

HGVS Amino-acid change
ENST00000270861.10:c.1299_1303del MANE Select ENSP00000270861.5:p.Phe433LeufsTer6
ENST00000270861.9:c.1299_1303del ENSP00000270861.5:p.Phe433LeufsTer6
ENST00000507249.5:c.1256+43_1256+47del ENSP00000423412.1:n.1256+43_1256+47del
ENST00000513090.5:c.1203_1207del ENSP00000427554.1:p.Phe401LeufsTer6
ENST00000514379.5:c.1176_1180del ENSP00000423582.1:p.Phe392LeufsTer6
ENST00000515069.5:c.1299_1303del ENSP00000421774.1:p.Phe433LeufsTer6
NM_001190799.1:c.1203_1207del NP_001177728.1:p.Phe401LeufsTer6
NM_001190801.1:c.1176_1180del NP_001177730.1:p.Phe392LeufsTer6
NM_014264.4:c.1299_1303del NP_055079.3:p.Phe433LeufsTer6
XM_005262701.2:c.1256+43_1256+47del XP_005262758.1:n.1256+43_1256+47del
XM_011531552.1:c.1299_1303del XP_011529854.1:p.Phe433LeufsTer6
XM_011531553.1:c.212_216del XP_011529855.1:p.Leu71Ter
XM_005262701.3:c.1256+43_1256+47del XP_005262758.1:n.1256+43_1256+47del
XM_017007662.1:c.1302_1306del XP_016863151.1:p.Phe434LeufsTer6
XM_017007663.2:c.1259+43_1259+47del XP_016863152.1:n.1259+43_1259+47del
NM_014264.5:c.1299_1303del MANE Select NP_055079.3:p.Phe433LeufsTer6
NM_001190799.2:c.1203_1207del NP_001177728.1:p.Phe401LeufsTer6
NM_001190801.2:c.1176_1180del NP_001177730.1:p.Phe392LeufsTer6
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