Linked Data
ClinVar Variation Id:
195097
dbSNP Id:
rs113994127
ExAC:
1:100316614 CAG / C
gnomAD v2:
1-100316614-CAG-C
gnomAD v3:
1-99851058-CAG-C
gnomAD v4:
1-99851058-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99851060_99851061del , CM000663.2:g.99851060_99851061del | GRCh38 |
| NC_000001.10:g.100316616_100316617del , CM000663.1:g.100316616_100316617del | GRCh37 |
| NC_000001.9:g.100089204_100089205del | NCBI36 |
| NG_012865.1:g.5977_5978del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.18_19del MANE Select | ENSP00000355106.3:p.Gln6HisfsTer20 | |
| ENST00000294724.8:c.18_19del | ENSP00000294724.4:p.Gln6HisfsTer20 | |
| ENST00000361302.7:c.-174_-173del | ENSP00000354971.3:n.-174_-173del | |
| ENST00000361915.7:c.18_19del | ENSP00000355106.3:p.Gln6HisfsTer20 | |
| ENST00000370163.7:c.18_19del | ENSP00000359182.3:p.Gln6HisfsTer20 | |
| ENST00000370165.7:c.18_19del | ENSP00000359184.3:p.Gln6HisfsTer20 | |
| NM_000028.2:c.18_19del | NP_000019.2:p.Gln6HisfsTer20 | |
| NM_000642.2:c.18_19del | NP_000633.2:p.Gln6HisfsTer20 | |
| NM_000643.2:c.18_19del | NP_000634.2:p.Gln6HisfsTer20 | |
| NM_000644.2:c.18_19del | NP_000635.2:p.Gln6HisfsTer20 | |
| NM_000646.2:c.-174_-173del | NP_000637.2:n.-174_-173del | |
| XM_005270557.1:c.18_19del | XP_005270614.1:p.Gln6HisfsTer20 | |
| XM_005270557.2:c.18_19del | XP_005270614.1:p.Gln6HisfsTer20 | |
| NM_000642.3:c.18_19del MANE Select | NP_000633.2:p.Gln6HisfsTer20 |