Linked Data
dbSNP Id:
rs1219730177
gnomAD v2:
11-6340662-ACTCCACCGGCTCCTCGTCCGAG-A
gnomAD v3:
11-6319432-ACTCCACCGGCTCCTCGTCCGAG-A
gnomAD v4:
11-6319432-ACTCCACCGGCTCCTCGTCCGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319436_6319457del , CM000673.2:g.6319436_6319457del | GRCh38 |
| NC_000011.9:g.6340666_6340687del , CM000673.1:g.6340666_6340687del | GRCh37 |
| NC_000011.8:g.6297242_6297263del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.495_516del MANE Select | ENSP00000307292.3:p.Ser166ProfsTer? | |
| ENST00000303927.3:c.495_516del | ENSP00000307292.3:p.Ser166ProfsTer? | |
| ENST00000524852.1:n.281_302del | ||
| ENST00000530979.1:c.591_612del | ENSP00000432047.1:p.Ser198ProfsTer? | |
| ENST00000532354.1:n.517_538del | ||
| NM_145040.2:c.495_516del | NP_659477.2:p.Ser166ProfsTer? | |
| XR_930997.1:n.720+1216_720+1237del | ||
| XR_001748106.1:n.47_68del | ||
| XR_242848.4:n.296_317del | ||
| NM_145040.3:c.495_516del MANE Select | NP_659477.2:p.Ser166ProfsTer? |