Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567167_137567170del , CM000685.2:g.137567167_137567170del | GRCh38 |
| NC_000023.10:g.136649326_136649329del , CM000685.1:g.136649326_136649329del | GRCh37 |
| NC_000023.9:g.136476992_136476995del | NCBI36 |
| NG_008115.1:g.5981_5984del | |
| NG_008115.2:g.6041_6044del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003413.4:c.476_479del MANE Select | NP_003404.1:p.Tyr159CysfsTer? |
| ENST00000287538.10:c.476_479del MANE Select | ENSP00000287538.5:p.Tyr159CysfsTer? |
| NM_001330661.1:c.476_479del | NP_001317590.1:p.Tyr159CysfsTer? |
| NM_003413.3:c.476_479del | NP_003404.1:p.Tyr159CysfsTer? |
| ENST00000287538.9:c.476_479del | ENSP00000287538.5:p.Tyr159CysfsTer? |
| ENST00000370606.3:c.476_479del | ENSP00000359638.3:p.Tyr159CysfsTer? |