Linked Data
dbSNP Id:
rs745429291
gnomAD v2:
9-139581758-CCAGCAGCAG-C
gnomAD v4:
9-136687306-CCAGCAGCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136687312_136687320del , CM000671.2:g.136687312_136687320del | GRCh38 |
| NC_000009.11:g.139581764_139581772del , CM000671.1:g.139581764_139581772del | GRCh37 |
| NC_000009.10:g.138701585_138701593del | NCBI36 |
| NG_008090.1:g.5145_5153del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.43_51del MANE Select | ENSP00000360761.2:p.Leu15_Leu17del | |
| ENST00000371694.7:c.43_51del | ENSP00000360759.3:p.Leu15_Leu17del | |
| ENST00000371696.6:c.43_51del | ENSP00000360761.2:p.Leu15_Leu17del | |
| ENST00000470861.1:n.51_59del | ||
| ENST00000538402.1:c.43_51del | ENSP00000438919.1:p.Leu15_Leu17del | |
| NM_001012727.1:c.43_51del | NP_001012745.1:p.Leu15_Leu17del | |
| NM_006412.3:c.43_51del | NP_006403.2:p.Leu15_Leu17del | |
| NM_006412.4:c.43_51del MANE Select | NP_006403.2:p.Leu15_Leu17del | |
| NM_001012727.2:c.43_51del | NP_001012745.1:p.Leu15_Leu17del |