Linked Data
ClinVar Variation Id:
331261
ClinVar RCV Id:
RCV000380731
dbSNP Id:
rs143648355
gnomAD v3:
2-144387045-G-GTATATA
gnomAD v4:
2-144387045-G-GTATATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144387058_144387063dup , CM000664.2:g.144387058_144387063dup | GRCh38 |
| NC_000002.11:g.145144625_145144630dup , CM000664.1:g.145144625_145144630dup | GRCh37 |
| NC_000002.10:g.144861095_144861100dup | NCBI36 |
| NG_016431.1:g.138341_138346dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000627532.3:c.*2400_*2405dup MANE Select | ENSP00000487174.1:n.*2400_*2405dup | |
| ENST00000636179.1:n.6014_6019dup | ||
| ENST00000636413.1:c.*2400_*2405dup | ENSP00000490508.1:n.*2400_*2405dup | |
| ENST00000636471.1:c.*2400_*2405dup | ENSP00000490317.1:n.*2400_*2405dup | |
| ENST00000636820.1:n.6145_6150dup | ||
| ENST00000637045.1:c.*2400_*2405dup | ENSP00000490141.1:n.*2400_*2405dup | |
| ENST00000637304.1:c.*2400_*2405dup | ENSP00000490872.1:n.*2400_*2405dup | |
| ENST00000638007.1:c.*2400_*2405dup | ENSP00000490723.1:n.*2400_*2405dup | |
| ENST00000638087.1:c.*2400_*2405dup | ENSP00000490673.1:n.*2400_*2405dup | |
| ENST00000638128.1:c.*2400_*2405dup | ENSP00000490934.1:n.*2400_*2405dup | |
| ENST00000639389.1:c.151+9361_151+9366dup | ENSP00000492572.1:n.151+9361_151+9366dup | |
| ENST00000627532.2:c.*2400_*2405dup | ENSP00000487174.1:n.*2400_*2405dup | |
| NM_001171653.1:c.*2400_*2405dup | NP_001165124.1:n.*2400_*2405dup | |
| NM_014795.3:c.*2400_*2405dup | NP_055610.1:n.*2400_*2405dup | |
| XM_006712881.2:c.*2400_*2405dup | XP_006712944.1:n.*2400_*2405dup | |
| XM_006712882.2:c.*2400_*2405dup | XP_006712945.1:n.*2400_*2405dup | |
| XM_011512231.1:c.*2400_*2405dup | XP_011510533.1:n.*2400_*2405dup | |
| XM_011512232.1:c.*2400_*2405dup | XP_011510534.1:n.*2400_*2405dup | |
| NM_014795.4:c.*2400_*2405dup MANE Select | NP_055610.1:n.*2400_*2405dup | |
| NM_001171653.2:c.*2400_*2405dup | NP_001165124.1:n.*2400_*2405dup |