Linked Data
ClinVar Variation Id:
97521
dbSNP Id:
rs104895121
gnomAD v2:
16-3304676-C-CCGTTCCCCT
gnomAD v3:
16-3254676-C-CCGTTCCCCT
gnomAD v4:
16-3254676-C-CCGTTCCCCT
MyVariant Identifiers:
chr16:g.3304677_3304685dup (hg19)
chr16:g.3304678_3304686dupGTTCCCCTC (hg19)
chr16:g.3304685_3304686insCGTTCCCCT (hg19)
chr16:g.3304676_3304677insCGTTCCCCT (hg19)
chr16:g.3254677_3254685dup (hg38)
chr16:g.3254678_3254686dupGTTCCCCTC (hg38)
chr16:g.3254676_3254677insCGTTCCCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3254688_3254696dup , CM000678.2:g.3254688_3254696dup | GRCh38 |
| NC_000016.9:g.3304688_3304696dup , CM000678.1:g.3304688_3304696dup | GRCh37 |
| NC_000016.8:g.3244689_3244697dup | NCBI36 |
| NG_007871.1:g.6943_6951dup , LRG_190:g.6943_6951dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.383_391dup MANE Select | ENSP00000219596.1:p.Asn130_Gly131insGluGlyAsn | |
| ENST00000219596.5:c.383_391dup | ENSP00000219596.1:p.Asn130_Gly131insGluGlyAsn | |
| ENST00000339854.8:c.277+1626_277+1634dup | ENSP00000339639.4:n.277+1626_277+1634dup | |
| ENST00000536379.5:c.277+1626_277+1634dup | ENSP00000445079.1:n.277+1626_277+1634dup | |
| ENST00000536980.5:c.277+1626_277+1634dup | ENSP00000444178.1:n.277+1626_277+1634dup | |
| ENST00000537682.5:c.383_391dup | ENSP00000438611.1:p.Asn130_Gly131insGluGlyAsn | |
| ENST00000538326.5:c.383_391dup | ENSP00000437486.1:p.Asn130_Gly131insGluGlyAsn | |
| ENST00000539145.5:c.277+1626_277+1634dup | ENSP00000444471.1:n.277+1626_277+1634dup | |
| ENST00000541159.5:c.277+1626_277+1634dup | ENSP00000438711.1:n.277+1626_277+1634dup | |
| ENST00000542898.5:c.383_391dup | ENSP00000444615.1:p.Asn130_Gly131insGluGlyAsn | |
| ENST00000570511.5:c.383_391dup | ENSP00000458312.1:p.Asn130_Gly131insGluGlyAsn | |
| ENST00000572244.5:c.277+1626_277+1634dup | ENSP00000461186.1:n.277+1626_277+1634dup | |
| ENST00000574583.5:c.277+1626_277+1634dup | ENSP00000460269.1:n.277+1626_277+1634dup | |
| ENST00000576315.5:c.277+1626_277+1634dup | ENSP00000460551.1:n.277+1626_277+1634dup | |
| ENST00000621655.1:c.277+1626_277+1634dup | ENSP00000481436.1:n.277+1626_277+1634dup | |
| NM_000243.2:c.383_391dup , LRG_190t1:c.383_391dup | NP_000234.1:p.Asn130_Gly131insGluGlyAsn | |
| NM_001198536.1:c.277+1626_277+1634dup | NP_001185465.1:n.277+1626_277+1634dup | |
| XM_017023236.2:c.383_391dup | XP_016878725.1:p.Asn130_Gly131insGluGlyAsn | |
| XR_001751903.1:n.572_580dup | ||
| NM_000243.3:c.383_391dup MANE Select | NP_000234.1:p.Asn130_Gly131insGluGlyAsn | |
| NM_001198536.2:c.277+1626_277+1634dup | NP_001185465.2:n.277+1626_277+1634dup |