Linked Data
ClinVar Variation Id:
849345
ClinVar RCV Id:
RCV001053285
dbSNP Id:
rs1705761854
gnomAD v4:
3-81705553-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705554_81705555del , CM000665.2:g.81705554_81705555del | GRCh38 |
| NC_000003.11:g.81754705_81754706del , CM000665.1:g.81754705_81754706del | GRCh37 |
| NC_000003.10:g.81837395_81837396del | NCBI36 |
| NG_011810.1:g.61246_61247del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.202_203del MANE Select | ENSP00000410833.2:p.Lys68ValfsTer6 | |
| ENST00000429644.6:c.202_203del | ENSP00000410833.2:p.Lys68ValfsTer6 | |
| ENST00000489715.1:c.79_80del | ENSP00000419638.1:p.Lys27ValfsTer6 | |
| NM_000158.3:c.202_203del | NP_000149.3:p.Lys68ValfsTer6 | |
| NM_000158.4:c.202_203del MANE Select | NP_000149.4:p.Lys68ValfsTer6 |