Linked Data
dbSNP Id:
rs1375765405
gnomAD v4:
16-3254403-C-CCCGGGGCGCCCCCCG
MyVariant Identifiers:
chr16:g.3304403_3304404insCCGGGGCGCCCCCCG (hg19)
chr16:g.3254403_3254404insCCGGGGCGCCCCCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3254406_3254420dup , CM000678.2:g.3254406_3254420dup | GRCh38 |
| NC_000016.9:g.3304406_3304420dup , CM000678.1:g.3304406_3304420dup | GRCh37 |
| NC_000016.8:g.3244407_3244421dup | NCBI36 |
| NG_007871.1:g.7210_7224dup , LRG_190:g.7210_7224dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.650_664dup MANE Select | ENSP00000219596.1:p.Pro221_Gly222insAlaGlyGlyAlaPro | |
| ENST00000219596.5:c.650_664dup | ENSP00000219596.1:p.Pro221_Gly222insAlaGlyGlyAlaPro | |
| ENST00000339854.8:c.277+1893_277+1907dup | ENSP00000339639.4:n.277+1893_277+1907dup | |
| ENST00000536379.5:c.277+1893_277+1907dup | ENSP00000445079.1:n.277+1893_277+1907dup | |
| ENST00000536980.5:c.277+1893_277+1907dup | ENSP00000444178.1:n.277+1893_277+1907dup | |
| ENST00000537682.5:c.650_664dup | ENSP00000438611.1:p.Pro221_Gly222insAlaGlyGlyAlaPro | |
| ENST00000538326.5:c.650_664dup | ENSP00000437486.1:p.Pro221_Gly222insAlaGlyGlyAlaPro | |
| ENST00000539145.5:c.277+1893_277+1907dup | ENSP00000444471.1:n.277+1893_277+1907dup | |
| ENST00000541159.5:c.277+1893_277+1907dup | ENSP00000438711.1:n.277+1893_277+1907dup | |
| ENST00000542898.5:c.650_664dup | ENSP00000444615.1:p.Pro221_Gly222insAlaGlyGlyAlaPro | |
| ENST00000570511.5:c.650_664dup | ENSP00000458312.1:p.Pro221_Gly222insAlaGlyGlyAlaPro | |
| ENST00000572244.5:c.277+1893_277+1907dup | ENSP00000461186.1:n.277+1893_277+1907dup | |
| ENST00000574583.5:c.277+1893_277+1907dup | ENSP00000460269.1:n.277+1893_277+1907dup | |
| ENST00000576315.5:c.277+1893_277+1907dup | ENSP00000460551.1:n.277+1893_277+1907dup | |
| ENST00000621655.1:c.277+1893_277+1907dup | ENSP00000481436.1:n.277+1893_277+1907dup | |
| NM_000243.2:c.650_664dup , LRG_190t1:c.650_664dup | NP_000234.1:p.Pro221_Gly222insAlaGlyGlyAlaPro | |
| NM_001198536.1:c.277+1893_277+1907dup | NP_001185465.1:n.277+1893_277+1907dup | |
| XM_017023236.2:c.650_664dup | XP_016878725.1:p.Pro221_Gly222insAlaGlyGlyAlaPro | |
| XR_001751903.1:n.839_853dup | ||
| NM_000243.3:c.650_664dup MANE Select | NP_000234.1:p.Pro221_Gly222insAlaGlyGlyAlaPro | |
| NM_001198536.2:c.277+1893_277+1907dup | NP_001185465.2:n.277+1893_277+1907dup |