Linked Data
gnomAD v4:
11-6319293-TCAGCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319295_6319299del , CM000673.2:g.6319295_6319299del | GRCh38 |
| NC_000011.9:g.6340525_6340529del , CM000673.1:g.6340525_6340529del | GRCh37 |
| NC_000011.8:g.6297101_6297105del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.651_655del MANE Select | ENSP00000307292.3:p.Ser217ArgfsTer? | |
| ENST00000303927.3:c.651_655del | ENSP00000307292.3:p.Ser217ArgfsTer? | |
| ENST00000524852.1:n.437_441del | ||
| ENST00000530979.1:c.747_751del | ENSP00000432047.1:p.Ser249ArgfsTer? | |
| ENST00000532354.1:n.673_677del | ||
| NM_145040.2:c.651_655del | NP_659477.2:p.Ser217ArgfsTer? | |
| XR_930997.1:n.720+1075_720+1079del | ||
| XR_242848.4:n.155_159del | ||
| NM_145040.3:c.651_655del MANE Select | NP_659477.2:p.Ser217ArgfsTer? |