Linked Data
ClinVar Variation Id:
553594
ClinVar RCV Id:
RCV000669075
dbSNP Id:
rs1429055740
gnomAD v2:
12-103237450-ACT-A
gnomAD v3:
12-102843672-ACT-A
gnomAD v4:
12-102843672-ACT-A
ERepo:
CA16020956/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843677_102843678del , CM000674.2:g.102843677_102843678del | GRCh38 |
| NC_000012.11:g.103237455_103237456del , CM000674.1:g.103237455_103237456del | GRCh37 |
| NC_000012.10:g.101761585_101761586del | NCBI36 |
| NG_008690.1:g.78929_78930del | |
| NG_008690.2:g.119737_119738del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1171_1172del MANE Select | ENSP00000448059.1:p.Ser391PhefsTer2 | |
| ENST00000307000.7:c.1156_1157del | ENSP00000303500.2:p.Ser386PhefsTer2 | |
| ENST00000549247.6:n.930_931del | ||
| ENST00000551114.2:n.833_834del | ||
| ENST00000553106.5:c.1171_1172del | ENSP00000448059.1:p.Ser391PhefsTer2 | |
| ENST00000635477.1:c.275_276del | ||
| ENST00000635528.1:n.686_687del | ||
| NM_000277.1:c.1171_1172del | NP_000268.1:p.Ser391PhefsTer2 | |
| XM_011538422.1:c.1114_1115del | XP_011536724.1:p.Ser372PhefsTer2 | |
| NM_000277.2:c.1171_1172del | NP_000268.1:p.Ser391PhefsTer2 | |
| NM_001354304.1:c.1171_1172del | NP_001341233.1:p.Ser391PhefsTer2 | |
| NM_000277.3:c.1171_1172del MANE Select | NP_000268.1:p.Ser391PhefsTer2 | |
| NM_001354304.2:c.1171_1172del | NP_001341233.1:p.Ser391PhefsTer2 |