Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869295_240869296insTGACAGAGCGAGAGA , CM000664.2:g.240869295_240869296insTGACAGAGCGAGAGA | GRCh38 |
| NC_000002.11:g.241808712_241808713insTGACAGAGCGAGAGA , CM000664.1:g.241808712_241808713insTGACAGAGCGAGAGA | GRCh37 |
| NC_000002.10:g.241457385_241457386insTGACAGAGCGAGAGA | NCBI36 |
| NG_008005.1:g.5551_5552insTGACAGAGCGAGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.291_292insTGACAGAGCGAGAGA | ||
| ENST00000307503.3:c.291_292insTGACAGAGCGAGAGA | ||
| ENST00000472436.1:n.311_312insTGACAGAGCGAGAGA | ||
| NM_000030.2:c.291_292insTGACAGAGCGAGAGA | ||
| XR_924060.1:n.405+937_405+938insTCTCTCGCTCTGTCA | ||
| NM_000030.3:c.291_292insTGACAGAGCGAGAGA |