Linked Data
ClinVar Variation Id:
2682165
ClinVar RCV Id:
RCV003479538
ERepo:
CA16020717/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917087_102917088dup , CM000674.2:g.102917087_102917088dup | GRCh38 |
| NC_000012.11:g.103310865_103310866dup , CM000674.1:g.103310865_103310866dup | GRCh37 |
| NC_000012.10:g.101834995_101834996dup | NCBI36 |
| NG_008690.1:g.5519_5520dup | |
| NG_008690.2:g.46327_46328dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.47_48dup MANE Select | ENSP00000448059.1:p.Asp17LeufsTer22 | |
| ENST00000307000.7:c.-101_-100dup | ENSP00000303500.2:n.-101_-100dup | |
| ENST00000546844.1:c.47_48dup | ENSP00000446658.1:p.Asp17LeufsTer22 | |
| ENST00000547319.1:n.358_359dup | ||
| ENST00000549111.5:n.143_144dup | ||
| ENST00000550978.6:c.31_32dup | ||
| ENST00000551337.5:c.47_48dup | ENSP00000447620.1:p.Asp17LeufsTer22 | |
| ENST00000551988.5:n.136_137dup | ||
| ENST00000553106.5:c.47_48dup | ENSP00000448059.1:p.Asp17LeufsTer22 | |
| ENST00000635500.1:n.29-4186_29-4185dup | ||
| NM_000277.1:c.47_48dup | NP_000268.1:p.Asp17LeufsTer22 | |
| XM_011538422.1:c.47_48dup | XP_011536724.1:p.Asp17LeufsTer22 | |
| NM_000277.2:c.47_48dup | NP_000268.1:p.Asp17LeufsTer22 | |
| NM_001354304.1:c.47_48dup | NP_001341233.1:p.Asp17LeufsTer22 | |
| XM_017019370.2:c.47_48dup | XP_016874859.1:p.Asp17LeufsTer22 | |
| NM_000277.3:c.47_48dup MANE Select | NP_000268.1:p.Asp17LeufsTer22 | |
| NM_001354304.2:c.47_48dup | NP_001341233.1:p.Asp17LeufsTer22 |