Linked Data
ClinVar Variation Id:
427750
ClinVar RCV Id:
RCV000490648
dbSNP Id:
rs781410769
PubMed:
PMID:27242165
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28986404_28986405del , CM000678.2:g.28986404_28986405del | GRCh38 |
| NC_000016.9:g.28997725_28997726del , CM000678.1:g.28997725_28997726del | GRCh37 |
| NC_000016.8:g.28905226_28905227del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697038.1:n.521_522del | ||
| ENST00000354453.7:n.615+5_615+6del | ||
| ENST00000395456.7:c.268_269del MANE Select | ENSP00000378841.3:p.Gly90LeufsTer12 | |
| ENST00000360872.9:c.268_269del | ENSP00000354119.5:p.Gly90LeufsTer12 | |
| ENST00000395456.6:c.268_269del | ENSP00000378841.2:p.Gly90LeufsTer12 | |
| ENST00000395461.7:c.376_377del | ENSP00000378845.3:p.Gly126LeufsTer12 | |
| ENST00000454369.6:c.265_266del | ENSP00000398793.2:p.Gly89LeufsTer12 | |
| ENST00000562701.5:c.295_296del | ENSP00000454793.1:n.295_296del | |
| ENST00000563964.5:n.535_536del | ||
| ENST00000564277.5:c.265_266del | ENSP00000457036.1:p.Gly89LeufsTer12 | |
| ENST00000566177.5:c.265_266del | ENSP00000456761.1:p.Gly89LeufsTer12 | |
| ENST00000568440.1:n.306_307del | ||
| ENST00000568899.5:n.152_153del | ||
| ENST00000570232.2:c.28_29del | ENSP00000455728.1:p.Gly10LeufsTer12 | |
| NM_001014987.1:c.268_269del | NP_001014987.1:p.Gly90LeufsTer12 | |
| NM_001014988.1:c.265_266del | NP_001014988.1:p.Gly89LeufsTer12 | |
| NM_001014989.1:c.376_377del | NP_001014989.2:p.Gly126LeufsTer12 | |
| NM_014387.3:c.268_269del | NP_055202.1:p.Gly90LeufsTer12 | |
| NM_001014987.2:c.268_269del MANE Select | NP_001014987.1:p.Gly90LeufsTer12 | |
| NM_001014988.2:c.265_266del | NP_001014988.1:p.Gly89LeufsTer12 | |
| NM_001014989.2:c.376_377del | NP_001014989.2:p.Gly126LeufsTer12 | |
| NM_014387.4:c.268_269del | NP_055202.1:p.Gly90LeufsTer12 |