Linked Data
dbSNP Id:
rs1563039437
gnomAD v2:
7-99359734-TCAC-T
gnomAD v3:
7-99762111-TCAC-T
gnomAD v4:
7-99762111-TCAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99762119_99762121del , CM000669.2:g.99762119_99762121del | GRCh38 |
| NC_000007.13:g.99359742_99359744del , CM000669.1:g.99359742_99359744del | GRCh37 |
| NC_000007.12:g.99197678_99197680del | NCBI36 |
| NG_008421.1:g.27072_27074del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1180_1182del | ENSP00000337915.3:p.Val394del | |
| ENST00000651162.1:n.615_617del | ||
| ENST00000651514.1:c.1180_1182del MANE Select | ENSP00000498939.1:p.Val394del | |
| ENST00000651783.1:c.721_723del | ENSP00000498924.1:p.Val241del | |
| ENST00000652018.1:c.1033_1035del | ENSP00000498733.1:p.Val345del | |
| ENST00000336411.6:c.1180_1182del | ENSP00000337915.2:p.Val394del | |
| ENST00000354593.6:c.730_732del | ENSP00000346607.2:p.Val244del | |
| NM_001202855.2:c.1177_1179del | NP_001189784.1:p.Val393del | |
| NM_017460.5:c.1180_1182del | NP_059488.2:p.Val394del | |
| XM_011515841.1:c.1180_1182del | XP_011514143.1:p.Val394del | |
| XM_011515842.1:c.1177_1179del | XP_011514144.1:p.Val393del | |
| NM_017460.6:c.1180_1182del MANE Select | NP_059488.2:p.Val394del | |
| NM_001202855.3:c.1177_1179del | NP_001189784.1:p.Val393del |