Linked Data
ClinVar Variation Id:
331291
ClinVar RCV Id:
RCV000307131
dbSNP Id:
rs558553086
gnomAD v2:
2-145146503-G-GA
gnomAD v3:
2-144388936-G-GA
gnomAD v4:
2-144388936-G-GA
COSMIC:
COSN1225773
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144388946dup , CM000664.2:g.144388946dup | GRCh38 |
| NC_000002.11:g.145146513dup , CM000664.1:g.145146513dup | GRCh37 |
| NC_000002.10:g.144862983dup | NCBI36 |
| NG_016431.1:g.136455dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440875.6:c.*514dup | ENSP00000475553.3:n.*514dup | |
| ENST00000627532.3:c.*514dup MANE Select | ENSP00000487174.1:n.*514dup | |
| ENST00000636026.2:c.*438dup | ENSP00000490776.1:n.*438dup | |
| ENST00000636179.1:n.4128dup | ||
| ENST00000636413.1:c.*514dup | ENSP00000490508.1:n.*514dup | |
| ENST00000636471.1:c.*514dup | ENSP00000490317.1:n.*514dup | |
| ENST00000636732.2:c.*3876dup | ENSP00000490175.1:n.*3876dup | |
| ENST00000636820.1:n.4259dup | ||
| ENST00000637045.1:c.*514dup | ENSP00000490141.1:n.*514dup | |
| ENST00000637304.1:c.*514dup | ENSP00000490872.1:n.*514dup | |
| ENST00000638007.1:c.*514dup | ENSP00000490723.1:n.*514dup | |
| ENST00000638087.1:c.*514dup | ENSP00000490673.1:n.*514dup | |
| ENST00000638128.1:c.*514dup | ENSP00000490934.1:n.*514dup | |
| ENST00000639389.1:c.151+7475dup | ENSP00000492572.1:n.151+7475dup | |
| ENST00000647488.1:c.1379dup | ENSP00000494820.1:n.1379dup | |
| ENST00000675069.1:c.*514dup | ENSP00000502467.1:n.*514dup | |
| ENST00000409487.7:c.*514dup | ENSP00000386854.2:n.*514dup | |
| ENST00000419938.5:c.656-55dup | ENSP00000394777.2:n.656-55dup | |
| ENST00000627532.2:c.*514dup | ENSP00000487174.1:n.*514dup | |
| NM_001171653.1:c.*514dup | NP_001165124.1:n.*514dup | |
| NM_014795.3:c.*514dup | NP_055610.1:n.*514dup | |
| XM_006712881.2:c.*514dup | XP_006712944.1:n.*514dup | |
| XM_006712882.2:c.*514dup | XP_006712945.1:n.*514dup | |
| XM_011512231.1:c.*514dup | XP_011510533.1:n.*514dup | |
| XM_011512232.1:c.*514dup | XP_011510534.1:n.*514dup | |
| NM_014795.4:c.*514dup MANE Select | NP_055610.1:n.*514dup | |
| NM_001171653.2:c.*514dup | NP_001165124.1:n.*514dup |