Linked Data
dbSNP Id:
rs1355740442
gnomAD v3:
11-119027310-AGGACC-A
gnomAD v4:
11-119027310-AGGACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027311_119027315del , CM000673.2:g.119027311_119027315del | GRCh38 |
| NC_000011.9:g.118898021_118898025del , CM000673.1:g.118898021_118898025del | GRCh37 |
| NC_000011.8:g.118403231_118403235del | NCBI36 |
| NG_013331.1:g.8591_8595del , LRG_187:g.8591_8595del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.856-220_856-216del | ||
| ENST00000697845.1:n.780-220_780-216del | ||
| ENST00000697846.1:n.856-220_856-216del | ||
| ENST00000697847.1:n.856-220_856-216del | ||
| ENST00000697848.1:n.856-220_856-216del | ||
| ENST00000697849.1:n.1895-220_1895-216del | ||
| ENST00000697850.1:n.856-220_856-216del | ||
| ENST00000697851.1:n.2216-220_2216-216del | ||
| ENST00000638186.1:n.930-220_930-216del | ||
| ENST00000638360.1:n.762-220_762-216del | ||
| ENST00000638925.1:n.863-220_863-216del | ||
| ENST00000650539.1:n.1032-220_1032-216del | ||
| ENST00000330775.9:c.626-220_626-216del | ENSP00000476242.2:n.626-220_626-216del | |
| ENST00000357590.9:c.626-220_626-216del | ENSP00000476176.2:n.626-220_626-216del | |
| ENST00000524428.5:n.948-220_948-216del | ||
| ENST00000525039.5:n.1050-220_1050-216del | ||
| ENST00000525102.5:n.1384-220_1384-216del | ||
| ENST00000525372.5:n.627-220_627-216del | ||
| ENST00000526275.5:n.1408-220_1408-216del | ||
| ENST00000526626.6:n.589-220_589-216del | ||
| ENST00000527992.5:n.854-220_854-216del | ||
| ENST00000529510.5:n.400-220_400-216del | ||
| ENST00000530407.5:n.776-220_776-216del | ||
| ENST00000532085.1:n.3237-220_3237-216del | ||
| ENST00000532888.6:n.922-220_922-216del | ||
| ENST00000538950.5:c.407-220_407-216del | ENSP00000475991.2:n.407-220_407-216del | |
| ENST00000545985.5:c.626-220_626-216del | ENSP00000475241.2:n.626-220_626-216del | |
| NM_001164277.1:c.626-220_626-216del , LRG_187t1:c.626-220_626-216del | NP_001157749.1:n.626-220_626-216del | |
| NM_001164278.1:c.626-220_626-216del | NP_001157750.1:n.626-220_626-216del | |
| NM_001164279.1:c.407-220_407-216del | NP_001157751.1:n.407-220_407-216del | |
| NM_001164280.1:c.626-220_626-216del | NP_001157752.1:n.626-220_626-216del | |
| NM_001467.5:c.626-220_626-216del | NP_001458.1:n.626-220_626-216del | |
| NM_001164278.2:c.626-220_626-216del | NP_001157750.1:n.626-220_626-216del | |
| NM_001164279.2:c.407-220_407-216del | NP_001157751.1:n.407-220_407-216del | |
| NM_001164280.2:c.626-220_626-216del | NP_001157752.1:n.626-220_626-216del | |
| NM_001467.6:c.626-220_626-216del | NP_001458.1:n.626-220_626-216del | |
| NM_001164277.2:c.626-220_626-216del MANE Select | NP_001157749.1:n.626-220_626-216del |