Linked Data
ClinVar Variation Id:
2136834
ClinVar RCV Id:
RCV003058240
dbSNP Id:
rs782288601
gnomAD v4:
9-133454567-CCT-C
MyVariant Identifiers:
chr9:g.133454568_133454569del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133454568_133454569del , CM000671.2:g.133454568_133454569del | GRCh38 |
| NC_000009.10:g.135309511_135309512del | NCBI36 |
| NG_011934.2:g.45230_45231del , LRG_544:g.45230_45231del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3198_3199del MANE Select | ENSP00000347927.2:p.Cys1067SerfsTer? | |
| ENST00000355699.6:c.3198_3199del | ENSP00000347927.2:p.Cys1067SerfsTer? | |
| ENST00000356589.6:c.3105_3106del | ENSP00000348997.2:p.Cys1036SerfsTer? | |
| ENST00000371916.5:c.*667_*668del | ENSP00000360984.2:n.*667_*668del | |
| ENST00000371929.7:c.3198_3199del | ENSP00000360997.3:p.Cys1067SerfsTer? | |
| ENST00000485925.5:n.2014_2015del | ||
| NM_139025.4:c.3198_3199del , LRG_544t1:c.3198_3199del | NP_620594.1:p.Cys1067SerfsTer? | |
| NM_139026.4:c.3105_3106del | NP_620595.1:p.Cys1036SerfsTer? | |
| NM_139027.4:c.3198_3199del | NP_620596.2:p.Cys1067SerfsTer? | |
| NR_024514.2:n.2033_2034del | ||
| XM_011518174.1:c.2808_2809del | XP_011516476.1:p.Cys937SerfsTer? | |
| XM_011518175.1:c.3198_3199del | XP_011516477.1:p.Cys1067SerfsTer? | |
| XM_011518176.1:c.2214_2215del | XP_011516478.1:p.Cys739SerfsTer? | |
| XM_011518177.1:c.2208_2209del | XP_011516479.1:p.Cys737SerfsTer? | |
| XM_011518178.1:c.1863_1864del | XP_011516480.1:p.Cys622SerfsTer? | |
| XM_011518179.1:c.1863_1864del | XP_011516481.1:p.Cys622SerfsTer? | |
| XM_011518180.1:c.1464_1465del | XP_011516482.1:p.Cys489SerfsTer? | |
| XM_011518176.3:c.2214_2215del | XP_011516478.1:p.Cys739SerfsTer? | |
| XM_011518178.2:c.1863_1864del | XP_011516480.1:p.Cys622SerfsTer? | |
| XM_017014232.1:c.3186_3187del | XP_016869721.1:p.Cys1063SerfsTer? | |
| XM_017014233.1:c.2808_2809del | XP_016869722.1:p.Cys937SerfsTer? | |
| XM_017014234.2:c.2208_2209del | XP_016869723.1:p.Cys737SerfsTer? | |
| NM_139026.5:c.3105_3106del | NP_620595.1:p.Cys1036SerfsTer? | |
| NM_139027.5:c.3198_3199del | NP_620596.2:p.Cys1067SerfsTer? | |
| NM_139025.5:c.3198_3199del | NP_620594.1:p.Cys1067SerfsTer? | |
| NM_139026.6:c.3105_3106del | NP_620595.1:p.Cys1036SerfsTer? | |
| NM_139027.6:c.3198_3199del MANE Select | NP_620596.2:p.Cys1067SerfsTer? | |
| NR_024514.3:n.2035_2036del |