Linked Data
ClinVar Variation Id:
41422
ClinVar RCV Id:
RCV000034321
dbSNP Id:
rs398122834
ExAC:
15:64448306 GCTGT / G
gnomAD v2:
15-64448306-GCTGT-G
gnomAD v4:
15-64156107-GCTGT-G
PubMed:
PMID:22718341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64156114_64156117del , CM000677.2:g.64156114_64156117del | GRCh38 |
| NC_000015.9:g.64448313_64448316del , CM000677.1:g.64448313_64448316del | GRCh37 |
| NC_000015.8:g.62235366_62235369del | NCBI36 |
| NG_012979.1:g.12045_12048del , LRG_10:g.12045_12048del | |
| NG_033071.1:g.9398_9401del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.563_566del (PPIB) MANE Select | ENSP00000300026.4:p.Asp188AlafsTer6 | |
| ENST00000325881.9:c.*1606_*1609del (SNX22) MANE Select | ENSP00000323435.4:n.*1606_*1609del | |
| ENST00000561048.2:n.3790_3793del (PPIB) | ||
| ENST00000680158.1:c.*236_*239del (PPIB) | ENSP00000504873.1:n.*236_*239del | |
| ENST00000680343.1:n.517_520del (PPIB) | ||
| ENST00000681397.1:c.563_566del (PPIB) | ENSP00000506584.1:p.Asp188AlafsTer6 | |
| ENST00000681658.1:c.458_461del (PPIB) | ENSP00000505431.1:p.Asp153AlafsTer6 | |
| ENST00000300026.3:c.563_566del (PPIB) | ENSP00000300026.3:p.Asp188AlafsTer6 | |
| ENST00000325881.8:c.*1606_*1609del (SNX22) | ENSP00000323435.4:n.*1606_*1609del | |
| ENST00000557789.5:n.2346_2349del (SNX22) | ||
| ENST00000560997.1:n.2001_2004del (SNX22) | ||
| NM_000942.4:c.563_566del , LRG_10t1:c.563_566del (PPIB) | NP_000933.1:p.Asp188AlafsTer6 | |
| NM_024798.2:c.*1606_*1609del (SNX22) | NP_079074.2:n.*1606_*1609del | |
| NR_073534.1:n.2294_2297del (SNX22) | ||
| XM_017022581.1:c.*1606_*1609del (SNX22) | XP_016878070.1:n.*1606_*1609del | |
| NM_024798.3:c.*1606_*1609del (SNX22) MANE Select | NP_079074.2:n.*1606_*1609del | |
| NM_000942.5:c.563_566del (PPIB) MANE Select | NP_000933.1:p.Asp188AlafsTer6 | |
| NR_073534.2:n.2280_2283del (SNX22) |