Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78306426_78306430del , CM000671.2:g.78306426_78306430del | GRCh38 |
| NC_000009.11:g.80921342_80921346del , CM000671.1:g.80921342_80921346del | GRCh37 |
| NC_000009.10:g.80111162_80111166del | NCBI36 |
| NG_012165.1:g.14284_14288del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.510_514del MANE Select | ENSP00000365773.3:p.Ala171ThrfsTer4 | |
| ENST00000347159.6:c.510_514del | ENSP00000317606.2:p.Ala171ThrfsTer4 | |
| ENST00000376588.3:c.510_514del | ENSP00000365773.3:p.Ala171ThrfsTer4 | |
| NM_021154.4:c.510_514del | NP_066977.1:p.Ala171ThrfsTer4 | |
| NM_058179.3:c.510_514del | NP_478059.1:p.Ala171ThrfsTer4 | |
| NM_058179.4:c.510_514del MANE Select | NP_478059.1:p.Ala171ThrfsTer4 | |
| NM_021154.5:c.510_514del | NP_066977.1:p.Ala171ThrfsTer4 |