Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071030del , CM000664.2:g.38071030del | GRCh38 |
| NC_000002.11:g.38298173del , CM000664.1:g.38298173del | GRCh37 |
| NC_000002.10:g.38151677del | NCBI36 |
| NG_008386.2:g.10073del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000104.4:c.1325del MANE Select | NP_000095.2:p.Pro442GlnfsTer15 |
| ENST00000610745.5:c.1325del MANE Select | ENSP00000478561.1:p.Pro442GlnfsTer15 |
| NM_000104.3:c.1325del | NP_000095.2:p.Pro442GlnfsTer15 |
| ENST00000490576.2:c.1325del | ENSP00000478839.2:p.Pro442GlnfsTer15 |
| ENST00000492443.1:n.703del | |
| ENST00000494864.1:c.212del | ENSP00000479876.1:p.Pro71GlnfsTer15 |
| ENST00000610745.4:c.1325del | ENSP00000478561.1:p.Pro442GlnfsTer15 |
| ENST00000614273.1:c.1325del | ENSP00000483678.1:p.Pro442GlnfsTer15 |