ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31071604del , CM000680.2:g.31071604del | GRCh38 |
| NC_000018.9:g.28651570del , CM000680.1:g.28651570del | GRCh37 |
| NC_000018.8:g.26905568del | NCBI36 |
| NG_008208.2:g.35822del , LRG_400:g.35822del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.1696+1del | ENSP00000507826.1:n.1696+1del | |
| ENST00000251081.8:c.2125+1del | ENSP00000251081.6:n.2125+1del | |
| ENST00000280904.11:c.2125+1del MANE Select | ENSP00000280904.6:n.2125+1del | |
| ENST00000648081.1:c.1696+1del | ENSP00000497441.1:n.1696+1del | |
| ENST00000251081.6:c.2125+1del | ENSP00000251081.6:n.2125+1del | |
| ENST00000280904.10:c.2125+1del | ENSP00000280904.6:n.2125+1del | |
| NM_004949.4:c.2125+1del | NP_004940.1:n.2125+1del | |
| NM_024422.4:c.2125+1del | NP_077740.1:n.2125+1del | |
| XM_005258206.3:c.1696+1del | XP_005258263.1:n.1696+1del | |
| XM_005258206.4:c.1696+1del | XP_005258263.1:n.1696+1del | |
| NM_004949.5:c.2125+1del | NP_004940.1:n.2125+1del | |
| NM_024422.6:c.2125+1del MANE Select | NP_077740.1:n.2125+1del |