Linked Data
ClinVar Variation Id:
2832087
ClinVar RCV Id:
RCV003651204
dbSNP Id:
rs1711686356
gnomAD v3:
3-180659520-T-TTA
gnomAD v4:
3-180659520-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659520_180659521insTA , CM000665.2:g.180659520_180659521insTA | GRCh38 |
| NC_000003.11:g.180377308_180377309insTA , CM000665.1:g.180377308_180377309insTA | GRCh37 |
| NC_000003.10:g.181860002_181860003insTA | NCBI36 |
| NG_029581.1:g.24975_24976insTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.669_670insTA MANE Select | ENSP00000417960.2:p.Ile224Ter | |
| ENST00000650641.1:n.748_749insTA | ||
| ENST00000650889.1:n.841_842insTA | ||
| ENST00000651046.1:c.669_670insTA | ENSP00000499175.1:p.Ile224Ter | |
| ENST00000651818.1:n.811_812insTA | ||
| ENST00000652024.1:n.760_761insTA | ||
| ENST00000652408.1:n.806_807insTA | ||
| ENST00000442201.6:c.669_670insTA | ENSP00000405708.2:p.Ile224Ter | |
| ENST00000476379.5:c.669_670insTA | ENSP00000417960.1:p.Ile224Ter | |
| NM_181426.1:c.669_670insTA | NP_852091.1:p.Ile224Ter | |
| NM_181426.2:c.669_670insTA MANE Select | NP_852091.1:p.Ile224Ter |