Linked Data
ClinVar Variation Id:
252929
ClinVar RCV Id:
RCV000256195
RCV000491471
RCV000624485
RCV001093465
RCV002252062
RCV001264708
RCV001753715
dbSNP Id:
rs886039773
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
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 |