Linked Data
ClinVar Variation Id:
1452370
ClinVar RCV Id:
RCV002037642
dbSNP Id:
rs2127698713
gnomAD v4:
6-80106713-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106714dup , CM000668.2:g.80106714dup | GRCh38 |
| NC_000006.11:g.80816431dup , CM000668.1:g.80816431dup | GRCh37 |
| NC_000006.10:g.80873150dup | NCBI36 |
| NG_009775.1:g.5088dup | |
| NG_009775.2:g.5088dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.21dup MANE Select | ENSP00000318351.5:p.Ala8CysfsTer13 | |
| ENST00000320393.8:c.21dup | ENSP00000318351.5:p.Ala8CysfsTer13 | |
| ENST00000356489.9:c.21dup | ENSP00000348880.5:p.Ala8CysfsTer13 | |
| ENST00000369760.8:c.21dup | ENSP00000358775.4:p.Ala8CysfsTer13 | |
| NM_000056.3:c.21dup | NP_000047.1:p.Ala8CysfsTer13 | |
| NM_183050.2:c.21dup | NP_898871.1:p.Ala8CysfsTer13 | |
| XM_005248756.3:c.21dup | XP_005248813.1:p.Ala8CysfsTer13 | |
| XM_006715542.2:c.-15+31dup | XP_006715605.1:n.-15+31dup | |
| XM_011536023.1:c.21dup | XP_011534325.1:p.Ala8CysfsTer13 | |
| XM_011536024.1:c.21dup | XP_011534326.1:p.Ala8CysfsTer13 | |
| XM_011536025.1:c.21dup | XP_011534327.1:p.Ala8CysfsTer13 | |
| XM_011536027.1:c.21dup | XP_011534329.1:p.Ala8CysfsTer13 | |
| NM_000056.4:c.21dup | NP_000047.1:p.Ala8CysfsTer13 | |
| NM_001318975.1:c.-15+31dup | NP_001305904.1:n.-15+31dup | |
| NM_183050.3:c.21dup | NP_898871.1:p.Ala8CysfsTer13 | |
| NR_134945.1:n.105dup | ||
| XM_005248756.5:c.21dup | XP_005248813.1:p.Ala8CysfsTer13 | |
| XM_011536023.3:c.21dup | XP_011534325.1:p.Ala8CysfsTer13 | |
| XM_011536024.3:c.21dup | XP_011534326.1:p.Ala8CysfsTer13 | |
| XM_011536025.3:c.21dup | XP_011534327.1:p.Ala8CysfsTer13 | |
| XR_001743546.2:n.51dup | ||
| XR_001743547.2:n.51dup | ||
| XR_001743548.2:n.51dup | ||
| XR_001743549.2:n.51dup | ||
| XR_002956292.1:n.51dup | ||
| NM_183050.4:c.21dup MANE Select | NP_898871.1:p.Ala8CysfsTer13 | |
| NR_134945.2:n.44dup | ||
| NM_000056.5:c.21dup | NP_000047.1:p.Ala8CysfsTer13 |