Linked Data
ClinVar Variation Id:
189144
dbSNP Id:
rs786204727
ExAC:
17:78086447 T / TA
gnomAD v2:
17-78086447-T-TA
gnomAD v3:
17-80112648-T-TA
gnomAD v4:
17-80112648-T-TA
MyVariant Identifiers:
chr17:g.78086448dupA (hg19)
chr17:g.78086447_78086448insA (hg19)
chr17:g.80112649dupA (hg38)
chr17:g.80112648_80112649insA (hg38)
ERepo:
CA274414/MONDO:0009290/010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80112649dup , CM000679.2:g.80112649dup | GRCh38 |
| NC_000017.10:g.78086448dup , CM000679.1:g.78086448dup | GRCh37 |
| NC_000017.9:g.75701043dup | NCBI36 |
| NG_009822.1:g.16094dup , LRG_673:g.16094dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.1826dup | ENSP00000460543.2:p.Tyr609Ter | |
| ENST00000572080.2:c.1826dup | ENSP00000459972.2:p.Tyr609Ter | |
| ENST00000577106.6:c.1826dup | ENSP00000458306.2:p.Tyr609Ter | |
| ENST00000302262.8:c.1826dup MANE Select | ENSP00000305692.3:p.Tyr609Ter | |
| ENST00000302262.7:c.1826dup | ENSP00000305692.3:p.Tyr609Ter | |
| ENST00000390015.7:c.1826dup | ENSP00000374665.3:p.Tyr609Ter | |
| ENST00000570716.1:n.266dup | ||
| ENST00000572080.1:c.214dup | ||
| ENST00000572803.1:n.440dup | ||
| NM_000152.3:c.1826dup , LRG_673t1:c.1826dup | NP_000143.2:p.Tyr609Ter | |
| NM_001079803.1:c.1826dup | NP_001073271.1:p.Tyr609Ter | |
| NM_001079804.1:c.1826dup | NP_001073272.1:p.Tyr609Ter | |
| XM_005257193.1:c.1826dup | XP_005257250.1:p.Tyr609Ter | |
| XM_005257194.3:c.1826dup | XP_005257251.1:p.Tyr609Ter | |
| NM_000152.4:c.1826dup | NP_000143.2:p.Tyr609Ter | |
| NM_001079803.2:c.1826dup | NP_001073271.1:p.Tyr609Ter | |
| NM_001079804.2:c.1826dup | NP_001073272.1:p.Tyr609Ter | |
| XM_005257193.2:c.1826dup | XP_005257250.1:p.Tyr609Ter | |
| XM_005257194.4:c.1826dup | XP_005257251.1:p.Tyr609Ter | |
| NM_000152.5:c.1826dup MANE Select | NP_000143.2:p.Tyr609Ter | |
| NM_001079803.3:c.1826dup | NP_001073271.1:p.Tyr609Ter | |
| NM_001079804.3:c.1826dup | NP_001073272.1:p.Tyr609Ter |