Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96416103_96416105del , CM000667.2:g.96416103_96416105del | GRCh38 |
| NC_000005.9:g.95751807_95751809del , CM000667.1:g.95751807_95751809del | GRCh37 |
| NC_000005.8:g.95777563_95777565del | NCBI36 |
| NG_021161.1:g.22178_22180del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.638_640del MANE Select | ENSP00000308024.2:p.Ala213del | |
| ENST00000311106.7:c.638_640del | ENSP00000308024.2:p.Ala213del | |
| ENST00000508626.5:c.497_499del | ENSP00000421600.1:p.Ala166del | |
| NM_000439.4:c.638_640del | NP_000430.3:p.Ala213del | |
| NM_001177875.1:c.497_499del | NP_001171346.1:p.Ala166del | |
| NR_130776.1:n.354+36451_354+36453del | ||
| NM_000439.5:c.638_640del MANE Select | NP_000430.3:p.Ala213del | |
| NM_001177875.2:c.497_499del | NP_001171346.1:p.Ala166del |