Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739141del , CM000674.2:g.120739141del | GRCh38 |
| NC_000012.11:g.121176944del , CM000674.1:g.121176944del | GRCh37 |
| NC_000012.10:g.119661327del | NCBI36 |
| NG_007991.1:g.18374del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.1031del MANE Select | ENSP00000242592.4:p.Glu344GlyfsTer30 | |
| ENST00000242592.8:c.1031del | ENSP00000242592.4:p.Glu344GlyfsTer30 | |
| ENST00000411593.2:c.1019del | ENSP00000401045.2:p.Glu340GlyfsTer30 | |
| NM_000017.3:c.1031del | NP_000008.1:p.Glu344GlyfsTer30 | |
| NM_001302554.1:c.1019del | NP_001289483.1:p.Glu340GlyfsTer30 | |
| NM_000017.4:c.1031del MANE Select | NP_000008.1:p.Glu344GlyfsTer30 | |
| NM_001302554.2:c.1019del | NP_001289483.1:p.Glu340GlyfsTer30 |