Linked Data
ClinVar Variation Id:
128015
dbSNP Id:
rs587780154
ExAC:
5:131945031 CAAAG / C
gnomAD v2:
5-131945031-CAAAG-C
gnomAD v3:
5-132609339-CAAAG-C
gnomAD v4:
5-132609339-CAAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609343_132609346del , CM000667.2:g.132609343_132609346del | GRCh38 |
| NC_000005.9:g.131945035_131945038del , CM000667.1:g.131945035_131945038del | GRCh37 |
| NC_000005.8:g.131972934_131972937del | NCBI36 |
| NG_021151.1:g.57420_57423del | |
| NG_021151.2:g.57367_57370del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.2983_2986del MANE Select | ENSP00000368100.4:p.Glu995ArgfsTer2 | |
| ENST00000638452.2:c.2686_2689del | ENSP00000492349.2:p.Glu896ArgfsTer2 | |
| ENST00000638504.1:n.2591_2594del | ||
| ENST00000638568.2:c.2686_2689del | ENSP00000491158.2:p.Glu896ArgfsTer2 | |
| ENST00000639899.1:n.3502_3505del | ||
| ENST00000640655.2:c.2686_2689del | ENSP00000491596.2:p.Glu896ArgfsTer2 | |
| ENST00000651723.1:c.*3066_*3069del | ENSP00000498237.1:n.*3066_*3069del | |
| ENST00000378823.7:c.2983_2986del | ENSP00000368100.4:p.Glu995ArgfsTer2 | |
| ENST00000533482.5:c.*2609_*2612del | ENSP00000431225.1:n.*2609_*2612del | |
| NM_005732.3:c.2983_2986del | NP_005723.2:p.Glu995ArgfsTer2 | |
| NM_005732.4:c.2983_2986del MANE Select | NP_005723.2:p.Glu995ArgfsTer2 |