Linked Data
dbSNP Id:
rs534939906
gnomAD v2:
11-32421808-CGA-C
gnomAD v3:
11-32400262-CGA-C
gnomAD v4:
11-32400262-CGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32400263_32400264del , CM000673.2:g.32400263_32400264del | GRCh38 |
| NC_000011.9:g.32421809_32421810del , CM000673.1:g.32421809_32421810del | GRCh37 |
| NC_000011.8:g.32378385_32378386del | NCBI36 |
| NG_009272.1:g.40278_40279del , LRG_525:g.40278_40279del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.966-220_966-219del | ENSP00000331327.5:n.966-220_966-219del | |
| ENST00000379077.9:c.*201-220_*201-219del | ENSP00000368368.5:n.*201-220_*201-219del | |
| ENST00000379079.8:c.366-220_366-219del | ENSP00000368370.2:n.366-220_366-219del | |
| ENST00000448076.9:c.1017-220_1017-219del | ENSP00000413452.5:n.1017-220_1017-219del | |
| ENST00000452863.10:c.1017-220_1017-219del MANE Select | ENSP00000415516.5:n.1017-220_1017-219del | |
| ENST00000526685.2:n.352_353del | ||
| ENST00000639563.3:c.966-220_966-219del | ENSP00000492269.3:n.966-220_966-219del | |
| ENST00000640146.2:c.342-220_342-219del | ENSP00000491984.2:n.342-220_342-219del | |
| ENST00000651794.1:n.760-220_760-219del | ||
| ENST00000652579.1:n.177-220_177-219del | ||
| ENST00000652724.1:n.88_89del | ||
| ENST00000332351.7:c.1002-220_1002-219del | ENSP00000331327.3:n.1002-220_1002-219del | |
| ENST00000379077.7:c.*201-220_*201-219del | ENSP00000368368.3:n.*201-220_*201-219del | |
| ENST00000379079.6:c.366-220_366-219del | ENSP00000368370.2:n.366-220_366-219del | |
| ENST00000448076.7:c.1002-220_1002-219del | ENSP00000413452.3:n.1002-220_1002-219del | |
| ENST00000452863.7:c.951-220_951-219del | ENSP00000415516.3:n.951-220_951-219del | |
| ENST00000526685.1:c.-291_-290del | ENSP00000436292.1:n.-291_-290del | |
| ENST00000527775.1:c.255-220_255-219del | ENSP00000435351.1:n.255-220_255-219del | |
| ENST00000527882.5:c.73-220_73-219del | ||
| ENST00000530998.5:c.315-220_315-219del | ENSP00000435307.1:n.315-220_315-219del | |
| NM_000378.4:c.951-220_951-219del | NP_000369.3:n.951-220_951-219del | |
| NM_001198551.1:c.366-220_366-219del , LRG_525t2:c.366-220_366-219del | NP_001185480.1:n.366-220_366-219del | |
| NM_001198552.1:c.315-220_315-219del | NP_001185481.1:n.315-220_315-219del | |
| NM_024424.3:c.1002-220_1002-219del | NP_077742.2:n.1002-220_1002-219del | |
| NM_024426.4:c.1002-220_1002-219del | NP_077744.3:n.1002-220_1002-219del | |
| NM_000378.5:c.966-220_966-219del | NP_000369.4:n.966-220_966-219del | |
| NM_024424.4:c.1017-220_1017-219del | NP_077742.3:n.1017-220_1017-219del | |
| NM_024426.5:c.1017-220_1017-219del | NP_077744.4:n.1017-220_1017-219del | |
| NM_001367854.1:c.-291_-290del | NP_001354783.1:n.-291_-290del | |
| NR_160306.1:n.1349-220_1349-219del | ||
| NM_000378.6:c.966-220_966-219del | NP_000369.4:n.966-220_966-219del | |
| NM_001198552.2:c.315-220_315-219del | NP_001185481.1:n.315-220_315-219del | |
| NM_024424.5:c.1017-220_1017-219del | NP_077742.3:n.1017-220_1017-219del | |
| NM_024426.6:c.1017-220_1017-219del MANE Select | NP_077744.4:n.1017-220_1017-219del |