Linked Data
ClinVar Variation Id:
1685834
ClinVar RCV Id:
RCV002250001
dbSNP Id:
rs745427943
ExAC:
17:78092541 G / GC
gnomAD v2:
17-78092541-G-GC
gnomAD v3:
17-80118742-G-GC
gnomAD v4:
17-80118742-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80118746dup , CM000679.2:g.80118746dup | GRCh38 |
| NC_000017.10:g.78092545dup , CM000679.1:g.78092545dup | GRCh37 |
| NC_000017.9:g.75707140dup | NCBI36 |
| NG_009822.1:g.22191dup , LRG_673:g.22191dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2740dup | ENSP00000460543.2:p.Gln914ProfsTer? | |
| ENST00000572080.2:c.*878dup | ENSP00000459972.2:n.*878dup | |
| ENST00000577106.6:c.2740dup | ENSP00000458306.2:p.Gln914ProfsTer? | |
| ENST00000302262.8:c.2740dup MANE Select | ENSP00000305692.3:p.Gln914ProfsTer? | |
| ENST00000302262.7:c.2740dup | ENSP00000305692.3:p.Gln914ProfsTer? | |
| ENST00000390015.7:c.2740dup | ENSP00000374665.3:p.Gln914ProfsTer? | |
| ENST00000573556.1:n.693dup | ||
| NM_000152.3:c.2740dup , LRG_673t1:c.2740dup | NP_000143.2:p.Gln914ProfsTer? | |
| NM_001079803.1:c.2740dup | NP_001073271.1:p.Gln914ProfsTer? | |
| NM_001079804.1:c.2740dup | NP_001073272.1:p.Gln914ProfsTer? | |
| XM_005257193.1:c.2740dup | XP_005257250.1:p.Gln914ProfsTer? | |
| XM_005257194.3:c.2740dup | XP_005257251.1:p.Gln914ProfsTer? | |
| NM_000152.4:c.2740dup | NP_000143.2:p.Gln914ProfsTer? | |
| NM_001079803.2:c.2740dup | NP_001073271.1:p.Gln914ProfsTer? | |
| NM_001079804.2:c.2740dup | NP_001073272.1:p.Gln914ProfsTer? | |
| XM_005257193.2:c.2740dup | XP_005257250.1:p.Gln914ProfsTer? | |
| XM_005257194.4:c.2740dup | XP_005257251.1:p.Gln914ProfsTer? | |
| NM_000152.5:c.2740dup MANE Select | NP_000143.2:p.Gln914ProfsTer? | |
| NM_001079803.3:c.2740dup | NP_001073271.1:p.Gln914ProfsTer? | |
| NM_001079804.3:c.2740dup | NP_001073272.1:p.Gln914ProfsTer? |