Linked Data
ClinVar Variation Id:
316698
ClinVar RCV Id:
RCV000302881
dbSNP Id:
rs397748288
gnomAD v2:
15-64448032-A-AC
gnomAD v3:
15-64155833-A-AC
gnomAD v4:
15-64155833-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64155836dup , CM000677.2:g.64155836dup | GRCh38 |
| NC_000015.9:g.64448035dup , CM000677.1:g.64448035dup | GRCh37 |
| NC_000015.8:g.62235088dup | NCBI36 |
| NG_012979.1:g.12322dup , LRG_10:g.12322dup | |
| NG_033071.1:g.9120dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.*189dup (PPIB) MANE Select | ENSP00000300026.4:n.*189dup | |
| ENST00000325881.9:c.*1328dup (SNX22) MANE Select | ENSP00000323435.4:n.*1328dup | |
| ENST00000680158.1:c.*513dup (PPIB) | ENSP00000504873.1:n.*513dup | |
| ENST00000680343.1:n.794dup (PPIB) | ||
| ENST00000681397.1:c.*189dup (PPIB) | ENSP00000506584.1:n.*189dup | |
| ENST00000681658.1:c.*189dup (PPIB) | ENSP00000505431.1:n.*189dup | |
| ENST00000300026.3:c.*189dup (PPIB) | ENSP00000300026.3:n.*189dup | |
| ENST00000325881.8:c.*1328dup (SNX22) | ENSP00000323435.4:n.*1328dup | |
| ENST00000557789.5:n.2068dup (SNX22) | ||
| ENST00000560997.1:n.1723dup (SNX22) | ||
| NM_000942.4:c.*189dup , LRG_10t1:c.*189dup (PPIB) | NP_000933.1:n.*189dup | |
| NM_024798.2:c.*1328dup (SNX22) | NP_079074.2:n.*1328dup | |
| NR_073534.1:n.2016dup (SNX22) | ||
| XM_017022581.1:c.*1328dup (SNX22) | XP_016878070.1:n.*1328dup | |
| NM_024798.3:c.*1328dup (SNX22) MANE Select | NP_079074.2:n.*1328dup | |
| NM_000942.5:c.*189dup (PPIB) MANE Select | NP_000933.1:n.*189dup | |
| NR_073534.2:n.2002dup (SNX22) |