Linked Data
ClinVar Variation Id:
1704408
dbSNP Id:
rs756918960
ExAC:
15:28273156 ACT / A
gnomAD v2:
15-28273156-ACT-A
gnomAD v3:
15-28028010-ACT-A
gnomAD v4:
15-28028010-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28028013_28028014del , CM000677.2:g.28028013_28028014del | GRCh38 |
| NC_000015.9:g.28273159_28273160del , CM000677.1:g.28273159_28273160del | GRCh37 |
| NC_000015.8:g.25946754_25946755del | NCBI36 |
| NG_009846.1:g.76301_76302del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.374_375del MANE Select | ENSP00000346659.3:p.Glu125ValfsTer8 | |
| ENST00000353809.9:c.374_375del | ENSP00000261276.8:p.Glu125ValfsTer8 | |
| ENST00000354638.7:c.374_375del | ENSP00000346659.3:p.Glu125ValfsTer8 | |
| ENST00000431101.1:c.374_375del | ENSP00000415431.1:p.Glu125ValfsTer8 | |
| ENST00000445578.5:c.374_375del | ENSP00000414425.1:p.Glu125ValfsTer8 | |
| NM_000275.2:c.374_375del | NP_000266.2:p.Glu125ValfsTer8 | |
| NM_001300984.1:c.374_375del | NP_001287913.1:p.Glu125ValfsTer8 | |
| XM_011521639.1:c.398_399del | XP_011519941.1:p.Glu133ValfsTer8 | |
| XM_011521640.1:c.374_375del | XP_011519942.1:p.Glu125ValfsTer8 | |
| XM_011521641.1:c.398_399del | XP_011519943.1:p.Glu133ValfsTer8 | |
| XM_011521642.1:c.398_399del | XP_011519944.1:p.Glu133ValfsTer8 | |
| XM_011521643.1:c.398_399del | XP_011519945.1:p.Glu133ValfsTer8 | |
| XM_011521644.1:c.398_399del | XP_011519946.1:p.Glu133ValfsTer8 | |
| XM_011521645.1:c.398_399del | XP_011519947.1:p.Glu133ValfsTer8 | |
| XM_011521646.1:c.398_399del | XP_011519948.1:p.Glu133ValfsTer8 | |
| XM_011521647.1:c.398_399del | XP_011519949.1:p.Glu133ValfsTer8 | |
| XR_931843.1:n.1759_1760del | ||
| XM_011521640.2:c.374_375del | XP_011519942.1:p.Glu125ValfsTer8 | |
| XM_017022255.1:c.398_399del | XP_016877744.1:p.Glu133ValfsTer8 | |
| XM_017022256.1:c.398_399del | XP_016877745.1:p.Glu133ValfsTer8 | |
| XM_017022257.1:c.398_399del | XP_016877746.1:p.Glu133ValfsTer8 | |
| XM_017022258.1:c.398_399del | XP_016877747.1:p.Glu133ValfsTer8 | |
| XM_017022259.1:c.398_399del | XP_016877748.1:p.Glu133ValfsTer8 | |
| XM_017022260.1:c.398_399del | XP_016877749.1:p.Glu133ValfsTer8 | |
| XM_017022261.1:c.203_204del | XP_016877750.1:p.Glu68ValfsTer8 | |
| XM_017022262.1:c.398_399del | XP_016877751.1:p.Glu133ValfsTer8 | |
| XM_017022263.1:c.398_399del | XP_016877752.1:p.Glu133ValfsTer8 | |
| XM_017022264.1:c.398_399del | XP_016877753.1:p.Glu133ValfsTer8 | |
| XM_017022265.1:c.398_399del | XP_016877754.1:p.Glu133ValfsTer8 | |
| XR_001751294.1:n.487_488del | ||
| NM_000275.3:c.374_375del MANE Select | NP_000266.2:p.Glu125ValfsTer8 | |
| NM_001300984.2:c.374_375del | NP_001287913.1:p.Glu125ValfsTer8 |