Linked Data
ClinVar Variation Id:
581846
dbSNP Id:
rs762245732
ExAC:
17:78090904 A / AGACGGT
gnomAD v2:
17-78090904-A-AGACGGT
gnomAD v3:
17-80117105-A-AGACGGT
gnomAD v4:
17-80117105-A-AGACGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80117108_80117113dup , CM000679.2:g.80117108_80117113dup | GRCh38 |
| NC_000017.10:g.78090907_78090912dup , CM000679.1:g.78090907_78090912dup | GRCh37 |
| NC_000017.9:g.75705502_75705507dup | NCBI36 |
| NG_009822.1:g.20553_20558dup , LRG_673:g.20553_20558dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2330_2331+4dup | ||
| ENST00000572080.2:c.*468_*469+4dup | ||
| ENST00000577106.6:c.2330_2331+4dup | ||
| ENST00000302262.8:c.2330_2331+4dup | ||
| ENST00000302262.7:c.2330_2331+4dup | ||
| ENST00000390015.7:c.2330_2331+4dup | ||
| ENST00000573556.1:n.283_284+4dup | ||
| NM_000152.3:c.2330_2331+4dup , LRG_673t1:c.2330_2331+4dup | ||
| NM_001079803.1:c.2330_2331+4dup | ||
| NM_001079804.1:c.2330_2331+4dup | ||
| XM_005257193.1:c.2330_2331+4dup | ||
| XM_005257194.3:c.2330_2331+4dup | ||
| NM_000152.4:c.2330_2331+4dup | ||
| NM_001079803.2:c.2330_2331+4dup | ||
| NM_001079804.2:c.2330_2331+4dup | ||
| XM_005257193.2:c.2330_2331+4dup | ||
| XM_005257194.4:c.2330_2331+4dup | ||
| NM_000152.5:c.2330_2331+4dup | ||
| NM_001079803.3:c.2330_2331+4dup | ||
| NM_001079804.3:c.2330_2331+4dup |