Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38683115_38683117del , CM000668.2:g.38683115_38683117del | GRCh38 |
| NC_000006.11:g.38650891_38650893del , CM000668.1:g.38650891_38650893del | GRCh37 |
| NC_000006.10:g.38758869_38758871del | NCBI36 |
| NG_012074.1:g.25069_25071del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.309-233_309-231del MANE Select | ENSP00000362463.3:n.309-233_309-231del | |
| ENST00000373365.4:c.309-233_309-231del | ENSP00000362463.3:n.309-233_309-231del | |
| ENST00000470973.1:n.108_110del | ||
| NM_006708.2:c.309-233_309-231del | NP_006699.2:n.309-233_309-231del | |
| NM_006708.3:c.309-233_309-231del MANE Select | NP_006699.2:n.309-233_309-231del |