Linked Data
ClinVar Variation Id:
189057
ClinVar RCV Id:
RCV000169454
dbSNP Id:
rs767882689
ExAC:
17:78078909 CTG / C
gnomAD v2:
17-78078909-CTG-C
gnomAD v4:
17-80105110-CTG-C
ERepo:
CA274328/MONDO:0009290/010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80105111_80105112del , CM000679.2:g.80105111_80105112del | GRCh38 |
| NC_000017.10:g.78078910_78078911del , CM000679.1:g.78078910_78078911del | GRCh37 |
| NC_000017.9:g.75693505_75693506del | NCBI36 |
| NG_009822.1:g.8556_8557del , LRG_673:g.8556_8557del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.525_526del | ENSP00000460543.2:p.Asn177ProfsTer11 | |
| ENST00000572080.2:c.525_526del | ENSP00000459972.2:p.Asn177ProfsTer11 | |
| ENST00000577106.6:c.525_526del | ENSP00000458306.2:p.Asn177ProfsTer11 | |
| ENST00000302262.8:c.525_526del MANE Select | ENSP00000305692.3:p.Asn177ProfsTer11 | |
| ENST00000302262.7:c.525_526del | ENSP00000305692.3:p.Asn177ProfsTer11 | |
| ENST00000390015.7:c.525_526del | ENSP00000374665.3:p.Asn177ProfsTer11 | |
| ENST00000570803.5:c.525_526del | ENSP00000460543.1:p.Asn177ProfsTer11 | |
| ENST00000577106.5:c.525_526del | ENSP00000458306.1:p.Asn177ProfsTer11 | |
| NM_000152.3:c.525_526del , LRG_673t1:c.525_526del | NP_000143.2:p.Asn177ProfsTer11 | |
| NM_001079803.1:c.525_526del | NP_001073271.1:p.Asn177ProfsTer11 | |
| NM_001079804.1:c.525_526del | NP_001073272.1:p.Asn177ProfsTer11 | |
| XM_005257193.1:c.525_526del | XP_005257250.1:p.Asn177ProfsTer11 | |
| XM_005257194.3:c.525_526del | XP_005257251.1:p.Asn177ProfsTer11 | |
| NM_000152.4:c.525_526del | NP_000143.2:p.Asn177ProfsTer11 | |
| NM_001079803.2:c.525_526del | NP_001073271.1:p.Asn177ProfsTer11 | |
| NM_001079804.2:c.525_526del | NP_001073272.1:p.Asn177ProfsTer11 | |
| XM_005257193.2:c.525_526del | XP_005257250.1:p.Asn177ProfsTer11 | |
| XM_005257194.4:c.525_526del | XP_005257251.1:p.Asn177ProfsTer11 | |
| NM_000152.5:c.525_526del MANE Select | NP_000143.2:p.Asn177ProfsTer11 | |
| NM_001079803.3:c.525_526del | NP_001073271.1:p.Asn177ProfsTer11 | |
| NM_001079804.3:c.525_526del | NP_001073272.1:p.Asn177ProfsTer11 |