Linked Data
ClinVar Variation Id:
2692977
ClinVar RCV Id:
RCV003509843
gnomAD v4:
19-17834595-C-CACGAATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17834599_17834605dup , CM000681.2:g.17834599_17834605dup | GRCh38 |
| NC_000019.9:g.17945408_17945414dup , CM000681.1:g.17945408_17945414dup | GRCh37 |
| NC_000019.8:g.17806408_17806414dup | NCBI36 |
| NG_007273.1:g.18390_18396dup , LRG_77:g.18390_18396dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*876_*882dup | ENSP00000513006.1:n.*876_*882dup | |
| ENST00000696967.1:n.1496_1502dup | ||
| ENST00000696970.1:n.974_980dup | ||
| ENST00000458235.7:c.2319_2325dup MANE Select | ENSP00000391676.1:p.Asp776HisfsTer3 | |
| ENST00000458235.5:c.2319_2325dup | ENSP00000391676.1:p.Asp776HisfsTer3 | |
| ENST00000527031.5:n.2278+2125_2278+2131dup | ||
| ENST00000527670.5:c.2319_2325dup | ENSP00000432511.1:p.Asp776HisfsTer3 | |
| ENST00000534444.1:c.2319_2325dup | ENSP00000436421.1:p.Asp776HisfsTer3 | |
| NM_000215.3:c.2319_2325dup , LRG_77t1:c.2319_2325dup | NP_000206.2:p.Asp776HisfsTer3 | |
| XM_005259896.2:c.2448_2454dup | XP_005259953.1:p.Asp819HisfsTer3 | |
| XM_006722745.2:c.2319_2325dup | XP_006722808.1:p.Asp776HisfsTer3 | |
| XM_011527990.1:c.2448_2454dup | XP_011526292.1:p.Asp819HisfsTer3 | |
| XR_430137.2:n.2458_2464dup | ||
| XM_005259896.3:c.2448_2454dup | XP_005259953.1:p.Asp819HisfsTer3 | |
| NM_000215.4:c.2319_2325dup MANE Select | NP_000206.2:p.Asp776HisfsTer3 |