Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109870287_109870288del , CM000666.2:g.109870287_109870288del | GRCh38 |
| NC_000004.11:g.110791443_110791444del , CM000666.1:g.110791443_110791444del | GRCh37 |
| NC_000004.10:g.111010892_111010893del | NCBI36 |
| NG_033249.1:g.27104_27105del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198506.5:c.1538_1539del MANE Select | NP_940908.3:p.Ser513CysfsTer? |
| ENST00000594814.6:c.1538_1539del MANE Select | ENSP00000469759.1:p.Ser513CysfsTer? |
| NM_198506.4:c.1538_1539del | NP_940908.3:p.Ser513CysfsTer? |
| ENST00000327908.3:c.989_990del | ENSP00000328222.3:p.Ser330CysfsTer? |
| ENST00000594814.5:c.1538_1539del | ENSP00000469759.1:p.Ser513CysfsTer? |
| XM_005262979.2:c.989_990del | XP_005263036.1:p.Ser330CysfsTer? |
| XM_017008167.1:c.989_990del | XP_016863656.1:p.Ser330CysfsTer? |