Linked Data
dbSNP Id:
rs1184846338
gnomAD v2:
11-32421749-CT-C
gnomAD v3:
11-32400203-CT-C
gnomAD v4:
11-32400203-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32400204del , CM000673.2:g.32400204del | GRCh38 |
| NC_000011.9:g.32421750del , CM000673.1:g.32421750del | GRCh37 |
| NC_000011.8:g.32378326del | NCBI36 |
| NG_009272.1:g.40338del , LRG_525:g.40338del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.966-160del | ENSP00000331327.5:n.966-160del | |
| ENST00000379077.9:c.*201-160del | ENSP00000368368.5:n.*201-160del | |
| ENST00000379079.8:c.366-160del | ENSP00000368370.2:n.366-160del | |
| ENST00000448076.9:c.1017-160del | ENSP00000413452.5:n.1017-160del | |
| ENST00000452863.10:c.1017-160del MANE Select | ENSP00000415516.5:n.1017-160del | |
| ENST00000526685.2:n.412del | ||
| ENST00000639563.3:c.966-160del | ENSP00000492269.3:n.966-160del | |
| ENST00000640146.2:c.342-160del | ENSP00000491984.2:n.342-160del | |
| ENST00000651794.1:n.760-160del | ||
| ENST00000652579.1:n.177-160del | ||
| ENST00000652724.1:n.148del | ||
| ENST00000332351.7:c.1002-160del | ENSP00000331327.3:n.1002-160del | |
| ENST00000379077.7:c.*201-160del | ENSP00000368368.3:n.*201-160del | |
| ENST00000379079.6:c.366-160del | ENSP00000368370.2:n.366-160del | |
| ENST00000448076.7:c.1002-160del | ENSP00000413452.3:n.1002-160del | |
| ENST00000452863.7:c.951-160del | ENSP00000415516.3:n.951-160del | |
| ENST00000526685.1:c.-231del | ENSP00000436292.1:n.-231del | |
| ENST00000527775.1:c.255-160del | ENSP00000435351.1:n.255-160del | |
| ENST00000527882.5:c.73-160del | ||
| ENST00000530998.5:c.315-160del | ENSP00000435307.1:n.315-160del | |
| NM_000378.4:c.951-160del | NP_000369.3:n.951-160del | |
| NM_001198551.1:c.366-160del , LRG_525t2:c.366-160del | NP_001185480.1:n.366-160del | |
| NM_001198552.1:c.315-160del | NP_001185481.1:n.315-160del | |
| NM_024424.3:c.1002-160del | NP_077742.2:n.1002-160del | |
| NM_024426.4:c.1002-160del | NP_077744.3:n.1002-160del | |
| NM_000378.5:c.966-160del | NP_000369.4:n.966-160del | |
| NM_024424.4:c.1017-160del | NP_077742.3:n.1017-160del | |
| NM_024426.5:c.1017-160del | NP_077744.4:n.1017-160del | |
| NM_001367854.1:c.-231del | NP_001354783.1:n.-231del | |
| NR_160306.1:n.1349-160del | ||
| NM_000378.6:c.966-160del | NP_000369.4:n.966-160del | |
| NM_001198552.2:c.315-160del | NP_001185481.1:n.315-160del | |
| NM_024424.5:c.1017-160del | NP_077742.3:n.1017-160del | |
| NM_024426.6:c.1017-160del MANE Select | NP_077744.4:n.1017-160del |