Linked Data
ClinVar Variation Id:
8129
ClinVar RCV Id:
RCV000008602
dbSNP Id:
rs606231171
gnomAD v2:
16-1841827-C-CGCGCAGGCT
gnomAD v3:
16-1791826-C-CGCGCAGGCT
gnomAD v4:
16-1791826-C-CGCGCAGGCT
MyVariant Identifiers:
chr16:g.1841828_1841836dupGCGCAGGCT (hg19)
chr16:g.1841827_1841828insGCGCAGGCT (hg19)
chr16:g.1791827_1791835dupGCGCAGGCT (hg38)
chr16:g.1791826_1791827insGCGCAGGCT (hg38)
PubMed:
PMID:17726072
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1791829_1791837dup , CM000678.2:g.1791829_1791837dup | GRCh38 |
| NC_000016.9:g.1841830_1841838dup , CM000678.1:g.1841830_1841838dup | GRCh37 |
| NC_000016.8:g.1781831_1781839dup | NCBI36 |
| NG_011778.1:g.6899_6907dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215539.4:c.583_591dup (IGFALS) MANE Select | ENSP00000215539.3:p.Arg197_Glu198insSerLeuArg | |
| ENST00000215539.3:c.583_591dup (IGFALS) | ENSP00000215539.3:p.Arg197_Glu198insSerLeuArg | |
| ENST00000415638.3:c.697_705dup (IGFALS) | ENSP00000416683.3:p.Arg235_Glu236insSerLeuArg | |
| ENST00000568221.1:c.*219_*227dup (IGFALS) | ENSP00000456923.1:n.*219_*227dup | |
| ENST00000569769.1:c.-13+1802_-13+1810dup (SPSB3) | ENSP00000455098.1:n.-13+1802_-13+1810dup | |
| NM_001146006.1:c.697_705dup (IGFALS) | NP_001139478.1:p.Arg235_Glu236insSerLeuArg | |
| NM_004970.2:c.583_591dup (IGFALS) | NP_004961.1:p.Arg197_Glu198insSerLeuArg | |
| NR_027389.1:n.637_645dup (IGFALS) | ||
| XM_011522476.1:c.664_672dup (IGFALS) | XP_011520778.1:p.Arg224_Glu225insSerLeuArg | |
| NM_001146006.2:c.697_705dup (IGFALS) | NP_001139478.1:p.Arg235_Glu236insSerLeuArg | |
| NM_004970.3:c.583_591dup (IGFALS) MANE Select | NP_004961.1:p.Arg197_Glu198insSerLeuArg |