MyVariant.info:
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102067188_102067191del , CM000672.2:g.102067188_102067191del | GRCh38 |
| NC_000010.10:g.103826945_103826948del , CM000672.1:g.103826945_103826948del | GRCh37 |
| NC_000010.9:g.103816935_103816938del | NCBI36 |
| NG_012029.1:g.6799_6802del , LRG_564:g.6799_6802del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299238.7:c.1714_1717del MANE Select | ENSP00000299238.5:p.Leu572AlafsTer? | |
| ENST00000299238.6:c.1714_1717del | ENSP00000299238.5:p.Leu572AlafsTer? | |
| NM_024747.5:c.1714_1717del , LRG_564t1:c.1714_1717del | NP_079023.2:p.Leu572AlafsTer? | |
| NM_024747.6:c.1714_1717del MANE Select | NP_079023.2:p.Leu572AlafsTer? |