Linked Data
dbSNP Id:
rs763997486
ExAC:
11:6340493 TC / T
gnomAD v2:
11-6340493-TC-T
gnomAD v4:
11-6319263-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319265del , CM000673.2:g.6319265del | GRCh38 |
| NC_000011.9:g.6340495del , CM000673.1:g.6340495del | GRCh37 |
| NC_000011.8:g.6297071del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.685del MANE Select | ENSP00000307292.3:p.Glu229SerfsTer? | |
| ENST00000303927.3:c.685del | ENSP00000307292.3:p.Glu229SerfsTer? | |
| ENST00000524852.1:n.471del | ||
| ENST00000530979.1:c.781del | ENSP00000432047.1:p.Glu261SerfsTer? | |
| ENST00000532354.1:n.707del | ||
| NM_145040.2:c.685del | NP_659477.2:p.Glu229SerfsTer? | |
| XR_930997.1:n.720+1045del | ||
| XR_242848.4:n.125del | ||
| NM_145040.3:c.685del MANE Select | NP_659477.2:p.Glu229SerfsTer? |