Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50197060_50197067del , CM000679.2:g.50197060_50197067del | GRCh38 |
| NC_000017.10:g.48274421_48274428del , CM000679.1:g.48274421_48274428del | GRCh37 |
| NC_000017.9:g.45629420_45629427del | NCBI36 |
| NG_007400.1:g.9574_9581del , LRG_1:g.9574_9581del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.751-3_755del | ||
| ENST00000225964.9:c.751-3_755del | ||
| ENST00000495677.1:n.478-3_482del | ||
| NM_000088.3:c.751-3_755del , LRG_1t1:c.751-3_755del | ||
| XM_005257058.3:c.751-3_755del | ||
| XM_005257059.3:c.751-3_755del | ||
| XM_011524341.1:c.751-3_755del | ||
| XM_005257058.4:c.751-3_755del | ||
| XM_005257059.4:c.751-3_755del | ||
| NM_000088.4:c.751-3_755del |