Linked Data
dbSNP Id:
rs1283898920
gnomAD v3:
9-129818810-AGGCTTGAT-A
gnomAD v4:
9-129818810-AGGCTTGAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818814_129818821del , CM000671.2:g.129818814_129818821del | GRCh38 |
| NC_000009.11:g.132581093_132581100del , CM000671.1:g.132581093_132581100del | GRCh37 |
| NC_000009.10:g.131620914_131620921del | NCBI36 |
| NG_008049.1:g.10345_10352del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.547_554del MANE Select | ENSP00000345719.4:p.Ile183PhefsTer6 | |
| ENST00000651202.1:c.643_650del | ENSP00000498222.1:p.Ile215PhefsTer6 | |
| ENST00000351698.4:c.547_554del | ENSP00000345719.4:p.Ile183PhefsTer6 | |
| ENST00000473604.2:n.657_664del | ||
| NM_000113.2:c.547_554del | NP_000104.1:p.Ile183PhefsTer6 | |
| XR_929731.1:n.707_714del | ||
| XR_929731.3:n.575_582del | ||
| NM_000113.3:c.547_554del MANE Select | NP_000104.1:p.Ile183PhefsTer6 |