Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671064_86671067del , CM000670.2:g.86671064_86671067del | GRCh38 |
| NC_000008.10:g.87683292_87683295del , CM000670.1:g.87683292_87683295del | GRCh37 |
| NC_000008.9:g.87752408_87752411del | NCBI36 |
| NG_016980.1:g.77611_77614del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.372_375del MANE Select | ENSP00000316605.5:p.Ile124MetfsTer12 | |
| ENST00000680314.1:n.133_136del | ||
| ENST00000681746.1:c.372_375del | ENSP00000505959.1:p.Ile124MetfsTer12 | |
| ENST00000320005.5:c.372_375del | ENSP00000316605.5:p.Ile124MetfsTer12 | |
| NM_019098.4:c.372_375del | NP_061971.3:p.Ile124MetfsTer12 | |
| XM_011517138.1:c.-43_-40del | XP_011515440.1:n.-43_-40del | |
| XM_011517138.2:c.-43_-40del | XP_011515440.1:n.-43_-40del | |
| NM_019098.5:c.372_375del MANE Select | NP_061971.3:p.Ile124MetfsTer12 |