Linked Data
ClinVar Variation Id:
2089716
ClinVar RCV Id:
RCV003020548
gnomAD v4:
16-23607907-C-CGCTGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607909_23607913dup , CM000678.2:g.23607909_23607913dup | GRCh38 |
| NC_000016.9:g.23619230_23619234dup , CM000678.1:g.23619230_23619234dup | GRCh37 |
| NC_000016.8:g.23526731_23526735dup | NCBI36 |
| NG_007406.1:g.38446_38450dup , LRG_308:g.38446_38450dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3308_3312dup | ENSP00000460666.3:p.Val1105SerfsTer5 | |
| ENST00000565038.2:c.*783_*787dup | ENSP00000459882.2:n.*783_*787dup | |
| ENST00000566069.6:c.3202-4243_3202-4239dup | ENSP00000459237.2:n.3202-4243_3202-4239dup | |
| ENST00000697377.2:c.3146_3150dup | ENSP00000513286.2:p.Val1051SerfsTer5 | |
| ENST00000697379.2:c.3308_3312dup | ENSP00000513287.2:p.Val1105SerfsTer5 | |
| ENST00000561514.2:c.2417_2421dup | ENSP00000460666.2:p.Val808SerfsTer5 | |
| ENST00000697374.1:c.2417_2421dup | ENSP00000513284.1:p.Val808SerfsTer5 | |
| ENST00000697375.1:n.4649_4653dup | ||
| ENST00000697376.1:c.2317-4243_2317-4239dup | ENSP00000513285.1:n.2317-4243_2317-4239dup | |
| ENST00000697377.1:c.2255_2259dup | ENSP00000513286.1:p.Val754SerfsTer5 | |
| ENST00000697378.1:n.3822_3826dup | ||
| ENST00000697379.1:c.2417_2421dup | ENSP00000513287.1:p.Val808SerfsTer5 | |
| ENST00000697380.1:n.2506_2510dup | ||
| ENST00000697381.1:n.1997_2001dup | ||
| ENST00000697382.1:c.*79_*83dup | ENSP00000513288.1:n.*79_*83dup | |
| ENST00000697383.1:c.836_840dup | ENSP00000513289.1:p.Val281SerfsTer5 | |
| ENST00000261584.9:c.3302_3306dup MANE Select | ENSP00000261584.4:p.Val1103SerfsTer5 | |
| ENST00000261584.8:c.3302_3306dup | ENSP00000261584.4:p.Val1103SerfsTer5 | |
| ENST00000566069.5:c.117-4243_117-4239dup | ||
| ENST00000568219.5:c.2417_2421dup | ENSP00000454703.2:p.Val808SerfsTer5 | |
| NM_024675.3:c.3302_3306dup , LRG_308t1:c.3302_3306dup | NP_078951.2:p.Val1103SerfsTer5 | |
| XM_011545946.1:c.3308_3312dup | XP_011544248.1:p.Val1105SerfsTer5 | |
| XM_011545947.1:c.3208-4243_3208-4239dup | XP_011544249.1:n.3208-4243_3208-4239dup | |
| XM_011545948.1:c.2417_2421dup | XP_011544250.1:p.Val808SerfsTer5 | |
| XR_950851.1:n.4010_4014dup | ||
| XM_011545946.2:c.3308_3312dup | XP_011544248.1:p.Val1105SerfsTer5 | |
| XM_011545947.2:c.3208-4243_3208-4239dup | XP_011544249.1:n.3208-4243_3208-4239dup | |
| XM_011545948.2:c.2417_2421dup | XP_011544250.1:p.Val808SerfsTer5 | |
| XM_017023671.1:c.3120-4243_3120-4239dup | XP_016879160.1:n.3120-4243_3120-4239dup | |
| XM_017023672.2:c.3114-4243_3114-4239dup | XP_016879161.1:n.3114-4243_3114-4239dup | |
| XM_017023673.2:c.3202-4243_3202-4239dup | XP_016879162.1:n.3202-4243_3202-4239dup | |
| NM_024675.4:c.3302_3306dup MANE Select | NP_078951.2:p.Val1103SerfsTer5 |