Linked Data
ClinVar Variation Id:
780115
ClinVar RCV Id:
RCV000961140
dbSNP Id:
rs140268489
ExAC:
5:137801632 ACAG / A
gnomAD v2:
5-137801632-ACAG-A
gnomAD v3:
5-138465943-ACAG-A
gnomAD v4:
5-138465943-ACAG-A
COSMIC:
COSM5867381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138465960_138465962del , CM000667.2:g.138465960_138465962del | GRCh38 |
| NC_000005.9:g.137801649_137801651del , CM000667.1:g.137801649_137801651del | GRCh37 |
| NC_000005.8:g.137829548_137829550del | NCBI36 |
| NG_021374.1:g.5469_5471del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239938.5:c.199_201del MANE Select | ENSP00000239938.4:p.Ser67del | |
| ENST00000239938.4:c.199_201del | ENSP00000239938.4:p.Ser67del | |
| NM_001964.2:c.199_201del | NP_001955.1:p.Ser67del | |
| NM_001964.3:c.199_201del MANE Select | NP_001955.1:p.Ser67del |