Linked Data
ClinVar Variation Id:
1526254
ClinVar RCV Id:
RCV002052274
dbSNP Id:
rs2128819092
gnomAD v4:
7-44145498-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145502del , CM000669.2:g.44145502del | GRCh38 |
| NC_000007.13:g.44185101del , CM000669.1:g.44185101del | GRCh37 |
| NC_000007.12:g.44151626del | NCBI36 |
| NG_008847.1:g.48925del | |
| NG_008847.2:g.57672del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1249del | ENSP00000379142.4:n.*1249del | |
| ENST00000616242.5:c.*371del | ENSP00000482149.2:n.*371del | |
| ENST00000683378.1:n.477del | ||
| ENST00000336642.9:c.285del | ENSP00000338009.5:p.Ser96AlafsTer13 | |
| ENST00000345378.7:c.1254del | ENSP00000223366.2:p.Ser419AlafsTer13 | |
| ENST00000403799.8:c.1251del MANE Select | ENSP00000384247.3:p.Ser418AlafsTer13 | |
| ENST00000671824.1:c.1314del | ENSP00000500264.1:p.Ser439AlafsTer13 | |
| ENST00000672743.1:n.263del | ||
| ENST00000673284.1:c.1251del | ENSP00000499852.1:p.Ser418AlafsTer13 | |
| ENST00000336642.8:c.303del | ENSP00000338009.4:p.Ser102AlafsTer13 | |
| ENST00000345378.6:c.1254del | ENSP00000223366.2:p.Ser419AlafsTer13 | |
| ENST00000395796.7:c.1248del | ENSP00000379142.3:p.Ser417AlafsTer13 | |
| ENST00000403799.7:c.1251del | ENSP00000384247.3:p.Ser418AlafsTer13 | |
| ENST00000437084.1:c.1200del | ENSP00000402840.1:p.Ser401AlafsTer13 | |
| ENST00000459642.1:n.631del | ||
| ENST00000616242.4:c.1248del | ENSP00000482149.1:p.Ser417AlafsTer13 | |
| NM_000162.3:c.1251del | NP_000153.1:p.Ser418AlafsTer13 | |
| NM_033507.1:c.1254del | NP_277042.1:p.Ser419AlafsTer13 | |
| NM_033508.1:c.1248del | NP_277043.1:p.Ser417AlafsTer13 | |
| NM_000162.4:c.1251del | NP_000153.1:p.Ser418AlafsTer13 | |
| NM_001354800.1:c.1251del | NP_001341729.1:p.Ser418AlafsTer13 | |
| NM_001354801.1:c.240del | NP_001341730.1:p.Ser81AlafsTer13 | |
| NM_001354802.1:c.111del | NP_001341731.1:p.Ser38AlafsTer13 | |
| NM_001354803.1:c.285del | NP_001341732.1:p.Ser96AlafsTer13 | |
| NM_033507.2:c.1254del | NP_277042.1:p.Ser419AlafsTer13 | |
| NM_033508.2:c.1248del | NP_277043.1:p.Ser417AlafsTer13 | |
| XM_024446707.1:c.111del | XP_024302475.1:p.Ser38AlafsTer13 | |
| NM_000162.5:c.1251del MANE Select | NP_000153.1:p.Ser418AlafsTer13 | |
| NM_033507.3:c.1254del | NP_277042.1:p.Ser419AlafsTer13 | |
| NM_033508.3:c.1248del | NP_277043.1:p.Ser417AlafsTer13 | |
| NM_001354803.2:c.285del | NP_001341732.1:p.Ser96AlafsTer13 |