Linked Data
ClinVar Variation Id:
871683
ClinVar RCV Id:
RCV001091778
dbSNP Id:
rs1214586505
gnomAD v2:
19-13318330-C-CG
gnomAD v3:
19-13207516-C-CG
gnomAD v4:
19-13207516-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13207522dup , CM000681.2:g.13207522dup | GRCh38 |
| NC_000019.9:g.13318336dup , CM000681.1:g.13318336dup | GRCh37 |
| NC_000019.8:g.13179336dup | NCBI36 |
| NG_011569.1:g.303944dup , LRG_7:g.303944dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.7317dup MANE Select | ENSP00000353362.5:p.Val2440ArgfsTer? | |
| ENST00000573710.7:c.7323dup | ENSP00000460092.3:p.Val2442ArgfsTer? | |
| ENST00000585802.6:c.2442dup | ENSP00000465598.2:p.Val815ArgfsTer? | |
| ENST00000635727.1:c.7320dup | ENSP00000490001.1:p.Val2441ArgfsTer? | |
| ENST00000635895.1:c.*529dup | ENSP00000490323.1:n.*529dup | |
| ENST00000636012.1:c.7284dup | ENSP00000490223.1:p.Val2429ArgfsTer? | |
| ENST00000636389.1:c.*403dup | ENSP00000489992.1:n.*403dup | |
| ENST00000637432.1:c.*529dup | ENSP00000490617.1:n.*529dup | |
| ENST00000637736.1:c.7179dup | ENSP00000489861.1:p.Val2394ArgfsTer? | |
| ENST00000637769.1:c.7320dup | ENSP00000489778.1:p.Val2441ArgfsTer? | |
| ENST00000638009.2:c.*529dup | ENSP00000489913.1:n.*529dup | |
| ENST00000638029.1:c.7335dup | ENSP00000489829.1:p.Val2446ArgfsTer? | |
| ENST00000360228.9:c.7317dup | ENSP00000353362.5:p.Val2440ArgfsTer? | |
| ENST00000573710.6:c.*529dup | ENSP00000460092.2:n.*529dup | |
| ENST00000585802.5:c.3339dup | ENSP00000465598.1:p.Val1114ArgfsTer? | |
| ENST00000587525.5:c.2742dup | ENSP00000467729.1:p.Val915ArgfsTer? | |
| ENST00000614285.4:c.7335dup | ENSP00000479983.1:p.Val2446ArgfsTer? | |
| NM_000068.3:c.*529dup | NP_000059.3:n.*529dup | |
| NM_001127221.1:c.*529dup , LRG_7t1:c.*529dup | NP_001120693.1:n.*529dup | |
| NM_001127222.1:c.7317dup | NP_001120694.1:p.Val2440ArgfsTer? | |
| NM_001174080.1:c.*529dup | NP_001167551.1:n.*529dup | |
| NM_023035.2:c.7335dup | NP_075461.2:p.Val2446ArgfsTer? | |
| NM_000068.4:c.*529dup | NP_000059.3:n.*529dup | |
| NM_001127222.2:c.7317dup MANE Select | NP_001120694.1:p.Val2440ArgfsTer? | |
| NM_001174080.2:c.*529dup | NP_001167551.1:n.*529dup | |
| NM_023035.3:c.7335dup | NP_075461.2:p.Val2446ArgfsTer? | |
| NM_001127221.2:c.*529dup | NP_001120693.1:n.*529dup |