Linked Data
ClinVar Variation Id:
421407
dbSNP Id:
rs1064795117
gnomAD v2:
16-78466633-CT-C
gnomAD v4:
16-78432736-CT-C
MyVariant Identifiers:
chr16:g.78466636del (hg19)
chr16:g.78466634del (hg19)
chr16:g.78432739del (hg38)
chr16:g.78432737del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78432739del , CM000678.2:g.78432739del | GRCh38 |
| NC_000016.9:g.78466636del , CM000678.1:g.78466636del | GRCh37 |
| NC_000016.8:g.77024137del | NCBI36 |
| NG_011698.1:g.338086del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000627394.3:c.1043del | ENSP00000485925.2:p.Phe348SerfsTer5 | |
| ENST00000683929.1:c.1043del | ENSP00000507689.1:p.Phe348SerfsTer? | |
| ENST00000684632.1:n.1422del | ||
| ENST00000566780.6:c.1043del MANE Select | ENSP00000457230.1:p.Phe348SerfsTer? | |
| ENST00000402655.6:c.409+317585del | ENSP00000384238.2:n.409+317585del | |
| ENST00000406884.6:c.516+268450del | ENSP00000384495.2:n.516+268450del | |
| ENST00000408984.7:c.1043del | ENSP00000386161.3:p.Phe348SerfsTer11 | |
| ENST00000539474.6:c.409+317585del | ENSP00000445210.2:n.409+317585del | |
| ENST00000566780.5:c.1043del | ENSP00000457230.1:p.Phe348SerfsTer? | |
| ENST00000569332.5:c.*840del | ENSP00000454788.1:n.*840del | |
| ENST00000620008.1:c.437del | ENSP00000482648.1:p.Phe146SerfsTer? | |
| NM_001291997.1:c.704del | NP_001278926.1:p.Phe235SerfsTer? | |
| NM_016373.3:c.1043del | NP_057457.1:p.Phe348SerfsTer? | |
| XM_006721195.2:c.1043del | XP_006721258.1:p.Phe348SerfsTer18 | |
| XM_011523100.1:c.1043del | XP_011521402.1:p.Phe348SerfsTer5 | |
| XM_011523101.1:c.1043del | XP_011521403.1:p.Phe348SerfsTer27 | |
| XM_011523102.1:c.1043del | XP_011521404.1:p.Phe348SerfsTer13 | |
| XM_011523103.1:c.1043del | XP_011521405.1:p.Phe348SerfsTer? | |
| XM_011523104.1:c.1043del | XP_011521406.1:p.Phe348SerfsTer? | |
| XR_933765.1:n.3418+1583del | ||
| XM_011523101.3:c.1043del | XP_011521403.1:p.Phe348SerfsTer27 | |
| XM_011523103.3:c.1043del | XP_011521405.1:p.Phe348SerfsTer? | |
| XM_011523104.3:c.1043del | XP_011521406.1:p.Phe348SerfsTer? | |
| NM_016373.4:c.1043del MANE Select | NP_057457.1:p.Phe348SerfsTer? | |
| NM_001291997.2:c.704del | NP_001278926.1:p.Phe235SerfsTer? |