Linked Data
ClinVar Variation Id:
8127
ClinVar RCV Id:
RCV000008600
dbSNP Id:
rs587776686
gnomAD v2:
16-1842315-TC-T
gnomAD v3:
16-1792314-TC-T
gnomAD v4:
16-1792314-TC-T
PubMed:
PMID:14762184
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1792319del , CM000678.2:g.1792319del | GRCh38 |
| NC_000016.9:g.1842320del , CM000678.1:g.1842320del | GRCh37 |
| NC_000016.8:g.1782321del | NCBI36 |
| NG_011778.1:g.6419del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215539.4:c.103del (IGFALS) MANE Select | ENSP00000215539.3:p.Glu35LysfsTer? | |
| ENST00000215539.3:c.103del (IGFALS) | ENSP00000215539.3:p.Glu35LysfsTer? | |
| ENST00000415638.3:c.217del (IGFALS) | ENSP00000416683.3:p.Glu73LysfsTer? | |
| ENST00000568221.1:c.135del (IGFALS) | ENSP00000456923.1:p.Lys46SerfsTer16 | |
| ENST00000569769.1:c.-13+1322del (SPSB3) | ENSP00000455098.1:n.-13+1322del | |
| NM_001146006.1:c.217del (IGFALS) | NP_001139478.1:p.Glu73LysfsTer? | |
| NM_004970.2:c.103del (IGFALS) | NP_004961.1:p.Glu35LysfsTer? | |
| NR_027389.1:n.157del (IGFALS) | ||
| XM_011522476.1:c.184del (IGFALS) | XP_011520778.1:p.Glu62LysfsTer? | |
| NM_001146006.2:c.217del (IGFALS) | NP_001139478.1:p.Glu73LysfsTer? | |
| NM_004970.3:c.103del (IGFALS) MANE Select | NP_004961.1:p.Glu35LysfsTer? |