Linked Data
ClinVar Variation Id:
459633
dbSNP Id:
rs550067660
gnomAD v2:
11-6411930-CCTGGTGCTGGCGCTGGCGCTGGCG-C
gnomAD v3:
11-6390700-CCTGGTGCTGGCGCTGGCGCTGGCG-C
gnomAD v4:
11-6390700-CCTGGTGCTGGCGCTGGCGCTGGCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390705_6390728del , CM000673.2:g.6390705_6390728del | GRCh38 |
| NC_000011.9:g.6411935_6411958del , CM000673.1:g.6411935_6411958del | GRCh37 |
| NC_000011.8:g.6368511_6368534del | NCBI36 |
| NG_011780.1:g.5281_5304del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.107_130del MANE Select | ENSP00000340409.4:p.Val36_Leu43del | |
| ENST00000342245.8:c.107_130del | ENSP00000340409.4:p.Val36_Leu43del | |
| ENST00000527275.5:c.107_130del | ENSP00000435350.1:p.Val36_Leu43del | |
| ENST00000530395.1:c.-96+66_-96+89del | ENSP00000431479.1:n.-96+66_-96+89del | |
| ENST00000531303.5:c.107_130del | ENSP00000432625.1:p.Val36_Leu43del | |
| ENST00000533123.5:c.107_130del | ENSP00000435950.1:p.Val36_Leu43del | |
| ENST00000533196.1:n.266_289del | ||
| ENST00000534405.5:c.107_130del | ENSP00000434353.1:p.Val36_Leu43del | |
| NM_000543.4:c.107_130del | NP_000534.3:p.Val36_Leu43del | |
| NM_001007593.2:c.107_130del | NP_001007594.2:p.Val36_Leu43del | |
| XM_005253075.3:c.107_130del | XP_005253132.1:p.Val36_Leu43del | |
| XM_011520303.1:c.107_130del | XP_011518605.1:p.Val36_Leu43del | |
| XM_011520304.1:c.107_130del | XP_011518606.1:p.Val36_Leu43del | |
| XR_930886.1:n.405_428del | ||
| NM_001318087.1:c.107_130del | NP_001305016.1:p.Val36_Leu43del | |
| NM_001318088.1:c.-855_-832del | NP_001305017.1:n.-855_-832del | |
| NM_001365135.1:c.107_130del | NP_001352064.1:p.Val36_Leu43del | |
| NR_027400.2:n.292_315del | ||
| NR_134502.1:n.292_315del | ||
| XM_011520304.2:c.107_130del | XP_011518606.1:p.Val36_Leu43del | |
| XR_001747940.2:n.232_255del | ||
| XR_002957158.1:n.232_255del | ||
| NM_000543.5:c.107_130del MANE Select | NP_000534.3:p.Val36_Leu43del | |
| NM_001007593.3:c.107_130del | NP_001007594.2:p.Val36_Leu43del | |
| NM_001318087.2:c.107_130del | NP_001305016.1:p.Val36_Leu43del | |
| NM_001318088.2:c.-855_-832del | NP_001305017.1:n.-855_-832del | |
| NM_001365135.2:c.107_130del | NP_001352064.1:p.Val36_Leu43del | |
| NR_027400.3:n.232_255del | ||
| NR_134502.2:n.232_255del |