Canonical Allele Identifier: CA10586132
Gene: SON HGNC NCBI

Linked Data

ClinVar Variation Id: 252929
ClinVar RCV Id: RCV000256195 RCV000491471 RCV000624485 RCV001093465 RCV002252062 RCV001264708 RCV001753715
dbSNP Id: rs886039773
COSMIC: COSM5418437 COSM5418438 COSM5418439
MyVariant Identifiers: chr21:g.34927290_34927293del (hg19) chr21:g.34927288_34927291del (hg19) chr21:g.33554984_33554987del (hg38)
PubMed: PMID:1944255 PMID:3054499 PMID:9185665 PMID:10509013 PMID:10950926 PMID:11306577 PMID:12606581 PMID:16033648 PMID:19961433 PMID:20053686 PMID:20581448 PMID:20976243 PMID:21504830 PMID:22193954 PMID:22948023 PMID:23001566 PMID:23033978 PMID:23416452 PMID:23424103 PMID:23595291 PMID:23603762 PMID:24013217 PMID:24896178 PMID:25533962 PMID:25590979 PMID:25782155 PMID:27256762 PMID:27545676 PMID:27545680 PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.33554984_33554987del , CM000683.2:g.33554984_33554987del GRCh38
NC_000021.8:g.34927290_34927293del , CM000683.1:g.34927290_34927293del GRCh37
NC_000021.7:g.33849160_33849163del NCBI36
NG_052981.1:g.16947_16950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695559.1:c.245-2172_245-2169del ENSP00000512016.1:n.245-2172_245-2169del
ENST00000704334.1:c.245-2172_245-2169del ENSP00000515848.1:n.245-2172_245-2169del
ENST00000356577.10:c.5753_5756del MANE Select ENSP00000348984.4:p.Val1918GlufsTer?
ENST00000300278.8:c.5753_5756del ENSP00000300278.2:p.Val1918GlufsTer?
ENST00000356577.8:c.5753_5756del ENSP00000348984.4:p.Val1918GlufsTer?
ENST00000381679.8:c.5753_5756del ENSP00000371095.4:p.Val1918GlufsTer?
ENST00000381692.6:c.245-2172_245-2169del ENSP00000371111.2:n.245-2172_245-2169del
ENST00000436227.5:c.2737_2740del
ENST00000455528.5:c.5753_5756del ENSP00000399783.1:p.Val1918GlufsTer?
NM_001291411.1:c.5753_5756del NP_001278340.1:p.Val1918GlufsTer?
NM_001291412.1:c.245-2172_245-2169del NP_001278341.1:n.245-2172_245-2169del
NM_032195.2:c.5753_5756del NP_115571.2:p.Val1918GlufsTer?
NM_138927.2:c.5753_5756del NP_620305.2:p.Val1918GlufsTer?
NR_103797.1:n.5808_5811del
NM_138927.3:c.5753_5756del NP_620305.2:p.Val1918GlufsTer?
NM_001291412.2:c.245-2172_245-2169del NP_001278341.1:n.245-2172_245-2169del
NM_001291411.2:c.5753_5756del NP_001278340.2:p.Val1918GlufsTer?
NM_001291412.3:c.245-2172_245-2169del NP_001278341.1:n.245-2172_245-2169del
NM_032195.3:c.5753_5756del NP_115571.3:p.Val1918GlufsTer?
NM_138927.4:c.5753_5756del MANE Select NP_620305.3:p.Val1918GlufsTer?
NR_103797.2:n.5808_5811del
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