Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570201_149570204del , CM000664.2:g.149570201_149570204del | GRCh38 |
| NC_000002.11:g.150426715_150426718del , CM000664.1:g.150426715_150426718del | GRCh37 |
| NC_000002.10:g.150134961_150134964del | NCBI36 |
| NG_009189.1:g.22615_22618del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.697-34_697-31del MANE Select | ENSP00000301920.5:n.697-34_697-31del | |
| ENST00000303319.9:c.697-34_697-31del | ENSP00000301920.5:n.697-34_697-31del | |
| ENST00000422782.2:c.799-34_799-31del | ENSP00000408331.2:n.799-34_799-31del | |
| ENST00000428879.5:c.697-34_697-31del | ENSP00000389060.1:n.697-34_697-31del | |
| NM_015702.2:c.697-34_697-31del | NP_056517.1:n.697-34_697-31del | |
| NM_015702.3:c.697-34_697-31del MANE Select | NP_056517.1:n.697-34_697-31del |