Linked Data
dbSNP Id:
rs1399515151
gnomAD v2:
17-8025282-AC-A
gnomAD v3:
17-8121964-AC-A
gnomAD v4:
17-8121964-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121966del , CM000679.2:g.8121966del | GRCh38 |
| NC_000017.10:g.8025284del , CM000679.1:g.8025284del | GRCh37 |
| NC_000017.9:g.7966009del | NCBI36 |
| NG_015807.1:g.1952del | |
| NG_015816.1:g.7128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.299del MANE Select | ENSP00000446205.2:p.Gly100ValfsTer? | |
| ENST00000317814.8:c.284del | ENSP00000314774.4:p.Gly95ValfsTer? | |
| ENST00000541682.6:c.299del | ENSP00000446205.2:p.Gly100ValfsTer? | |
| ENST00000577735.1:c.275del | ENSP00000462491.1:p.Gly92ValfsTer? | |
| NM_001165967.1:c.299del | NP_001159439.1:p.Gly100ValfsTer? | |
| NM_032580.3:c.284del | NP_115969.2:p.Gly95ValfsTer? | |
| XM_011524038.1:c.404del | XP_011522340.1:p.Gly135ValfsTer? | |
| XM_011524039.1:c.395del | XP_011522341.1:p.Gly132ValfsTer? | |
| XM_011524040.1:c.395del | XP_011522342.1:p.Gly132ValfsTer? | |
| XM_011524041.1:c.386del | XP_011522343.1:p.Gly129ValfsTer? | |
| XM_011524042.1:c.257del | XP_011522344.1:p.Gly86ValfsTer? | |
| XR_934203.1:n.69+2152del | ||
| XM_017025232.1:c.404del | XP_016880721.1:p.Gly135ValfsTer? | |
| XM_024451007.1:c.404del | XP_024306775.1:p.Gly135ValfsTer? | |
| NM_001165967.2:c.299del MANE Select | NP_001159439.1:p.Gly100ValfsTer? | |
| NM_032580.4:c.284del | NP_115969.2:p.Gly95ValfsTer? |