Linked Data
dbSNP Id:
rs759228679
ExAC:
16:70515372 CAA / C
gnomAD v2:
16-70515372-CAA-C
gnomAD v4:
16-70481469-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70481471_70481472del , CM000678.2:g.70481471_70481472del | GRCh38 |
| NC_000016.9:g.70515374_70515375del , CM000678.1:g.70515374_70515375del | GRCh37 |
| NC_000016.8:g.69072875_69072876del | NCBI36 |
| NG_027529.1:g.47084_47085del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*2199_*2200del | ENSP00000461912.2:n.*2199_*2200del | |
| ENST00000703106.1:c.2168_2169del | ENSP00000515173.1:n.2168_2169del | |
| ENST00000703107.1:c.*2052_*2053del | ENSP00000515174.1:n.*2052_*2053del | |
| ENST00000703108.1:c.*571_*572del | ENSP00000515175.1:n.*571_*572del | |
| ENST00000703109.1:c.2156_2157del | ENSP00000515176.1:p.Phe719Ter | |
| ENST00000703110.1:c.*1625_*1626del | ENSP00000515177.1:n.*1625_*1626del | |
| ENST00000703111.1:n.2406_2407del | ||
| ENST00000703112.1:n.3067_3068del | ||
| ENST00000703113.1:c.*1536_*1537del | ENSP00000515178.1:n.*1536_*1537del | |
| ENST00000703114.1:c.*772_*773del | ENSP00000515179.1:n.*772_*773del | |
| ENST00000703115.1:c.1236_1237del | ENSP00000515180.1:n.1236_1237del | |
| ENST00000323786.10:c.2123_2124del MANE Select | ENSP00000315775.5:p.Phe708Ter | |
| ENST00000564415.6:c.*1903_*1904del | ENSP00000456653.2:n.*1903_*1904del | |
| ENST00000674443.1:c.2048_2049del | ENSP00000501405.1:p.Phe683Ter | |
| ENST00000323786.9:c.2123_2124del | ENSP00000315775.5:p.Phe708Ter | |
| ENST00000393612.8:c.2060_2061del | ENSP00000377236.5:p.Phe687Ter | |
| ENST00000482252.5:c.2270_2271del | ENSP00000432802.1:n.2270_2271del | |
| ENST00000526700.5:n.1299_1300del | ||
| ENST00000530314.5:n.2802_2803del | ||
| ENST00000564415.5:c.*1903_*1904del | ENSP00000456653.1:n.*1903_*1904del | |
| ENST00000565715.1:c.185_186del | ENSP00000455693.1:p.Phe62Ter | |
| NM_001195139.1:c.2060_2061del | NP_001182068.1:p.Phe687Ter | |
| NM_015386.2:c.2123_2124del | NP_056201.2:p.Phe708Ter | |
| XM_011522981.1:c.1697_1698del | XP_011521283.1:p.Phe566Ter | |
| XM_011522981.3:c.1697_1698del | XP_011521283.1:p.Phe566Ter | |
| XM_024450224.1:c.1142_1143del | XP_024305992.1:p.Phe381Ter | |
| XR_001751889.1:n.2006_2007del | ||
| XR_933266.2:n.2069_2070del | ||
| NM_015386.3:c.2123_2124del MANE Select | NP_056201.2:p.Phe708Ter | |
| NM_001195139.2:c.2048_2049del | NP_001182068.2:p.Phe683Ter | |
| NM_001365426.1:c.1697_1698del | NP_001352355.1:p.Phe566Ter | |
| NR_158212.1:n.2082_2083del |