Linked Data
dbSNP Id:
rs770357684
ExAC:
1:100336044 CAG / C
gnomAD v2:
1-100336044-CAG-C
gnomAD v4:
1-99870488-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99870491_99870492del , CM000663.2:g.99870491_99870492del | GRCh38 |
| NC_000001.10:g.100336047_100336048del , CM000663.1:g.100336047_100336048del | GRCh37 |
| NC_000001.9:g.100108635_100108636del | NCBI36 |
| NG_012865.1:g.25408_25409del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.756_757del MANE Select | ENSP00000355106.3:p.Arg252SerfsTer8 | |
| ENST00000637337.1:n.967_968del | ||
| ENST00000294724.8:c.756_757del | ENSP00000294724.4:p.Arg252SerfsTer8 | |
| ENST00000361302.7:c.708_709del | ENSP00000354971.3:p.Arg236SerfsTer8 | |
| ENST00000361522.4:c.705_706del | ENSP00000354635.4:p.Arg235SerfsTer8 | |
| ENST00000361915.7:c.756_757del | ENSP00000355106.3:p.Arg252SerfsTer8 | |
| ENST00000370161.6:c.708_709del | ENSP00000359180.2:p.Arg236SerfsTer8 | |
| ENST00000370163.7:c.756_757del | ENSP00000359182.3:p.Arg252SerfsTer8 | |
| ENST00000370165.7:c.756_757del | ENSP00000359184.3:p.Arg252SerfsTer8 | |
| NM_000028.2:c.756_757del | NP_000019.2:p.Arg252SerfsTer8 | |
| NM_000642.2:c.756_757del | NP_000633.2:p.Arg252SerfsTer8 | |
| NM_000643.2:c.756_757del | NP_000634.2:p.Arg252SerfsTer8 | |
| NM_000644.2:c.756_757del | NP_000635.2:p.Arg252SerfsTer8 | |
| NM_000645.2:c.705_706del | NP_000636.2:p.Arg235SerfsTer8 | |
| NM_000646.2:c.708_709del | NP_000637.2:p.Arg236SerfsTer8 | |
| XM_005270557.1:c.756_757del | XP_005270614.1:p.Arg252SerfsTer8 | |
| XM_005270557.2:c.756_757del | XP_005270614.1:p.Arg252SerfsTer8 | |
| NM_000642.3:c.756_757del MANE Select | NP_000633.2:p.Arg252SerfsTer8 |