Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12695515_12695551delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA , CM000671.2:g.12695515_12695551delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA | GRCh38 |
| NC_000009.11:g.12695515_12695551delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA , CM000671.1:g.12695515_12695551delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA | GRCh37 |
| NC_000009.10:g.12685515_12685551delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA | NCBI36 |
| NG_011705.1:g.7130_7166delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.386_422delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA MANE Select | ENSP00000373570.4:p.Val129= | |
| ENST00000388918.9:c.386_422delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA | ENSP00000373570.4:p.Val129= | |
| NM_000550.2:c.386_422delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA | NP_000541.1:p.Val129= | |
| XR_001746372.2:n.575_611delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA | ||
| NM_000550.3:c.386_422delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA MANE Select | NP_000541.1:p.Val129= |