Linked Data
ClinVar Variation Id:
556718
ClinVar RCV Id:
RCV000672761
dbSNP Id:
rs1555601780
gnomAD v4:
17-80113311-CTG-C
MyVariant Identifiers:
chr17:g.80113313_80113314del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80113313_80113314del , CM000679.2:g.80113313_80113314del | GRCh38 |
| NC_000017.10:g.78087112_78087113del , CM000679.1:g.78087112_78087113del | GRCh37 |
| NC_000017.9:g.75701707_75701708del | NCBI36 |
| NG_009822.1:g.16758_16759del , LRG_673:g.16758_16759del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2136_2137del | ENSP00000460543.2:p.Phe713ProfsTer23 | |
| ENST00000572080.2:c.*274_*275del | ENSP00000459972.2:n.*274_*275del | |
| ENST00000577106.6:c.2136_2137del | ENSP00000458306.2:p.Phe713ProfsTer23 | |
| ENST00000302262.8:c.2136_2137del MANE Select | ENSP00000305692.3:p.Phe713ProfsTer23 | |
| ENST00000302262.7:c.2136_2137del | ENSP00000305692.3:p.Phe713ProfsTer23 | |
| ENST00000390015.7:c.2136_2137del | ENSP00000374665.3:p.Phe713ProfsTer23 | |
| ENST00000572080.1:c.555_556del | ||
| NM_000152.3:c.2136_2137del , LRG_673t1:c.2136_2137del | NP_000143.2:p.Phe713ProfsTer23 | |
| NM_001079803.1:c.2136_2137del | NP_001073271.1:p.Phe713ProfsTer23 | |
| NM_001079804.1:c.2136_2137del | NP_001073272.1:p.Phe713ProfsTer23 | |
| XM_005257193.1:c.2136_2137del | XP_005257250.1:p.Phe713ProfsTer23 | |
| XM_005257194.3:c.2136_2137del | XP_005257251.1:p.Phe713ProfsTer23 | |
| NM_000152.4:c.2136_2137del | NP_000143.2:p.Phe713ProfsTer23 | |
| NM_001079803.2:c.2136_2137del | NP_001073271.1:p.Phe713ProfsTer23 | |
| NM_001079804.2:c.2136_2137del | NP_001073272.1:p.Phe713ProfsTer23 | |
| XM_005257193.2:c.2136_2137del | XP_005257250.1:p.Phe713ProfsTer23 | |
| XM_005257194.4:c.2136_2137del | XP_005257251.1:p.Phe713ProfsTer23 | |
| NM_000152.5:c.2136_2137del MANE Select | NP_000143.2:p.Phe713ProfsTer23 | |
| NM_001079803.3:c.2136_2137del | NP_001073271.1:p.Phe713ProfsTer23 | |
| NM_001079804.3:c.2136_2137del | NP_001073272.1:p.Phe713ProfsTer23 |