Linked Data
ClinVar Variation Id:
221560
ClinVar RCV Id:
RCV001777155
dbSNP Id:
rs869025289
PubMed:
PMID:25758992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115970713_115970714del , CM000674.2:g.115970713_115970714del | GRCh38 |
| NC_000012.11:g.116408518_116408519del , CM000674.1:g.116408518_116408519del | GRCh37 |
| NC_000012.10:g.114892901_114892902del | NCBI36 |
| NG_023366.1:g.311475_311476del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281928.9:c.5949_5950del MANE Select | ENSP00000281928.3:p.Gln1984AlafsTer? | |
| ENST00000548784.2:n.2163_2164del | ||
| ENST00000648379.1:n.4317_4318del | ||
| ENST00000648737.1:n.5713_5714del | ||
| ENST00000648825.1:n.4134_4135del | ||
| ENST00000648916.1:n.3960_3961del | ||
| ENST00000649607.1:c.4133_4134del | ||
| ENST00000649775.1:c.2438_2439del | ||
| ENST00000650226.1:c.5985_5986del | ENSP00000496981.1:p.Gln1996AlafsTer? | |
| ENST00000281928.7:c.5949_5950del | ENSP00000281928.3:p.Gln1984AlafsTer? | |
| ENST00000548784.1:n.447_448del | ||
| ENST00000552447.1:c.562_563del | ||
| NM_015335.4:c.5949_5950del | NP_056150.1:p.Gln1984AlafsTer? | |
| XM_011538080.1:c.5985_5986del | XP_011536382.1:p.Gln1996AlafsTer? | |
| XM_011538081.1:c.5982_5983del | XP_011536383.1:p.Gln1995AlafsTer? | |
| XM_011538082.1:c.5955_5956del | XP_011536384.1:p.Gln1986AlafsTer? | |
| XM_011538080.2:c.5985_5986del | XP_011536382.1:p.Gln1996AlafsTer? | |
| XM_011538081.2:c.5982_5983del | XP_011536383.1:p.Gln1995AlafsTer? | |
| XM_011538082.2:c.5955_5956del | XP_011536384.1:p.Gln1986AlafsTer? | |
| XM_017019090.1:c.5946_5947del | XP_016874579.1:p.Gln1983AlafsTer? | |
| NM_015335.5:c.5949_5950del MANE Select | NP_056150.1:p.Gln1984AlafsTer? |