ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62626330_62626335del , CM000673.2:g.62626330_62626335del | GRCh38 |
| NC_000011.9:g.62393802_62393807del , CM000673.1:g.62393802_62393807del | GRCh37 |
| NC_000011.8:g.62150378_62150383del | NCBI36 |
| NG_031863.1:g.843_848del | |
| NG_053018.1:g.25394_25399del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356638.8:c.2624+2_2624+7del | ||
| ENST00000648273.1:c.2333+2_2333+7del | ||
| ENST00000346178.8:c.2690+2_2690+7del | ||
| ENST00000356638.7:c.2624+2_2624+7del | ||
| ENST00000528503.1:n.313+2_313+7del | ||
| ENST00000532402.5:c.*2356+2_*2356+7del | ||
| ENST00000534779.5:c.2348+2_2348+7del | ||
| ENST00000540933.5:c.2333+2_2333+7del | ||
| NM_001278192.1:c.2348+2_2348+7del | ||
| NM_001278193.1:c.2282+2_2282+7del | ||
| NM_001278194.1:c.2333+2_2333+7del | ||
| NM_198334.2:c.2624+2_2624+7del | ||
| NM_198335.3:c.2690+2_2690+7del | ||
| NM_001329222.1:c.2333+2_2333+7del | ||
| NM_001329223.1:c.2333+2_2333+7del | ||
| NM_001329224.1:c.1901+2_1901+7del | ||
| NM_001329225.1:c.1901+2_1901+7del | ||
| XM_017017412.1:c.2333+2_2333+7del | ||
| NM_198334.3:c.2624+2_2624+7del | ||
| NM_001278192.2:c.2348+2_2348+7del | ||
| NM_001278193.2:c.2282+2_2282+7del | ||
| NM_001329223.2:c.2333+2_2333+7del | ||
| NM_001329225.2:c.1901+2_1901+7del | ||
| NM_198335.4:c.2690+2_2690+7del | ||
| NM_001278194.2:c.2333+2_2333+7del | ||
| NM_001329222.2:c.2333+2_2333+7del | ||
| NM_001329224.2:c.1901+2_1901+7del |