Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610561_1610568del , CM000668.2:g.1610561_1610568del | GRCh38 |
| NC_000006.11:g.1610796_1610803del , CM000668.1:g.1610796_1610803del | GRCh37 |
| NC_000006.10:g.1555795_1555802del | NCBI36 |
| NG_009368.1:g.5116_5123del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645831.2:c.116_123del MANE Select | ENSP00000493906.1:p.Ala39GlyfsTer? | |
| ENST00000380874.3:c.116_123del | ENSP00000370256.2:p.Ala39GlyfsTer? | |
| NM_001453.2:c.116_123del | NP_001444.2:p.Ala39GlyfsTer? | |
| NM_001453.3:c.116_123del MANE Select | NP_001444.2:p.Ala39GlyfsTer? |