Linked Data
ClinVar Variation Id:
371302
ClinVar RCV Id:
RCV000409689
dbSNP Id:
rs1057517165
MyVariant Identifiers:
chr17:g.78078621_78078631del (hg19)
chr17:g.78078615_78078625del (hg19)
chr17:g.80104822_80104832del (hg38)
chr17:g.80104816_80104826del (hg38)
ERepo:
CA16041880/MONDO:0009290/010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80104822_80104832del , CM000679.2:g.80104822_80104832del | GRCh38 |
| NC_000017.10:g.78078621_78078631del , CM000679.1:g.78078621_78078631del | GRCh37 |
| NC_000017.9:g.75693216_75693226del | NCBI36 |
| NG_009822.1:g.8267_8277del , LRG_673:g.8267_8277del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570803.6:c.236_246del | ENSP00000460543.2:p.Pro79ArgfsTer13 | |
| ENST00000572080.2:c.236_246del | ENSP00000459972.2:p.Pro79ArgfsTer13 | |
| ENST00000577106.6:c.236_246del | ENSP00000458306.2:p.Pro79ArgfsTer13 | |
| ENST00000302262.8:c.236_246del MANE Select | ENSP00000305692.3:p.Pro79ArgfsTer13 | |
| ENST00000302262.7:c.236_246del | ENSP00000305692.3:p.Pro79ArgfsTer13 | |
| ENST00000390015.7:c.236_246del | ENSP00000374665.3:p.Pro79ArgfsTer13 | |
| ENST00000570803.5:c.236_246del | ENSP00000460543.1:p.Pro79ArgfsTer13 | |
| ENST00000577106.5:c.236_246del | ENSP00000458306.1:p.Pro79ArgfsTer13 | |
| NM_000152.3:c.236_246del , LRG_673t1:c.236_246del | NP_000143.2:p.Pro79ArgfsTer13 | |
| NM_001079803.1:c.236_246del | NP_001073271.1:p.Pro79ArgfsTer13 | |
| NM_001079804.1:c.236_246del | NP_001073272.1:p.Pro79ArgfsTer13 | |
| XM_005257193.1:c.236_246del | XP_005257250.1:p.Pro79ArgfsTer13 | |
| XM_005257194.3:c.236_246del | XP_005257251.1:p.Pro79ArgfsTer13 | |
| NM_000152.4:c.236_246del | NP_000143.2:p.Pro79ArgfsTer13 | |
| NM_001079803.2:c.236_246del | NP_001073271.1:p.Pro79ArgfsTer13 | |
| NM_001079804.2:c.236_246del | NP_001073272.1:p.Pro79ArgfsTer13 | |
| XM_005257193.2:c.236_246del | XP_005257250.1:p.Pro79ArgfsTer13 | |
| XM_005257194.4:c.236_246del | XP_005257251.1:p.Pro79ArgfsTer13 | |
| NM_000152.5:c.236_246del MANE Select | NP_000143.2:p.Pro79ArgfsTer13 | |
| NM_001079803.3:c.236_246del | NP_001073271.1:p.Pro79ArgfsTer13 | |
| NM_001079804.3:c.236_246del | NP_001073272.1:p.Pro79ArgfsTer13 |