Linked Data
dbSNP Id:
rs180177092
ExAC:
16:23647108 TAG / T
gnomAD v2:
16-23647108-TAG-T
gnomAD v4:
16-23635787-TAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23635790_23635791del , CM000678.2:g.23635790_23635791del | GRCh38 |
| NC_000016.9:g.23647111_23647112del , CM000678.1:g.23647111_23647112del | GRCh37 |
| NC_000016.8:g.23554612_23554613del | NCBI36 |
| NG_007406.1:g.10569_10570del , LRG_308:g.10569_10570del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.763_764del | ENSP00000460666.3:p.Leu255IlefsTer3 | |
| ENST00000565038.2:c.211+2061_211+2062del | ENSP00000459882.2:n.211+2061_211+2062del | |
| ENST00000566069.6:c.757_758del | ENSP00000459237.2:p.Leu253IlefsTer3 | |
| ENST00000697377.2:c.763_764del | ENSP00000513286.2:p.Leu255IlefsTer3 | |
| ENST00000697379.2:c.763_764del | ENSP00000513287.2:p.Leu255IlefsTer3 | |
| ENST00000561514.2:c.-129_-128del | ENSP00000460666.2:n.-129_-128del | |
| ENST00000697374.1:c.-129_-128del | ENSP00000513284.1:n.-129_-128del | |
| ENST00000697375.1:n.2104_2105del | ||
| ENST00000697376.1:c.-129_-128del | ENSP00000513285.1:n.-129_-128del | |
| ENST00000697377.1:c.-129_-128del | ENSP00000513286.1:n.-129_-128del | |
| ENST00000697378.1:n.1277_1278del | ||
| ENST00000697379.1:c.-129_-128del | ENSP00000513287.1:n.-129_-128del | |
| ENST00000697382.1:c.-129_-128del | ENSP00000513288.1:n.-129_-128del | |
| ENST00000697383.1:c.48+5321_48+5322del | ENSP00000513289.1:n.48+5321_48+5322del | |
| ENST00000697384.1:n.911_912del | ||
| ENST00000261584.9:c.757_758del MANE Select | ENSP00000261584.4:p.Leu253IlefsTer3 | |
| ENST00000261584.8:c.757_758del | ENSP00000261584.4:p.Leu253IlefsTer3 | |
| ENST00000565038.1:c.86+2061_86+2062del | ||
| ENST00000568219.5:c.-129_-128del | ENSP00000454703.2:n.-129_-128del | |
| NM_024675.3:c.757_758del , LRG_308t1:c.757_758del | NP_078951.2:p.Leu253IlefsTer3 | |
| XM_011545946.1:c.763_764del | XP_011544248.1:p.Leu255IlefsTer3 | |
| XM_011545947.1:c.763_764del | XP_011544249.1:p.Leu255IlefsTer3 | |
| XM_011545948.1:c.-129_-128del | XP_011544250.1:n.-129_-128del | |
| XR_950851.1:n.1553_1554del | ||
| XM_011545946.2:c.763_764del | XP_011544248.1:p.Leu255IlefsTer3 | |
| XM_011545947.2:c.763_764del | XP_011544249.1:p.Leu255IlefsTer3 | |
| XM_011545948.2:c.-129_-128del | XP_011544250.1:n.-129_-128del | |
| XM_017023671.1:c.763_764del | XP_016879160.1:p.Leu255IlefsTer3 | |
| XM_017023672.2:c.757_758del | XP_016879161.1:p.Leu253IlefsTer3 | |
| XM_017023673.2:c.757_758del | XP_016879162.1:p.Leu253IlefsTer3 | |
| NM_024675.4:c.757_758del MANE Select | NP_078951.2:p.Leu253IlefsTer3 |