Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6182094_6182095del , CM000668.2:g.6182094_6182095del | GRCh38 |
| NC_000006.11:g.6182327_6182328del , CM000668.1:g.6182327_6182328del | GRCh37 |
| NC_000006.10:g.6127326_6127327del | NCBI36 |
| NG_008107.1:g.143597_143598del , LRG_549:g.143597_143598del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000129.4:c.1352_1353del MANE Select | NP_000120.2:p.His451ArgfsTer29 |
| ENST00000264870.8:c.1352_1353del MANE Select | ENSP00000264870.3:p.His451ArgfsTer29 |
| NM_000129.3:c.1352_1353del , LRG_549t1:c.1352_1353del | NP_000120.2:p.His451ArgfsTer29 |
| ENST00000264870.7:c.1352_1353del | ENSP00000264870.3:p.His451ArgfsTer29 |
| XM_006715010.2:c.1352_1353del | XP_006715073.1:p.His451ArgfsTer29 |
| XM_011514342.1:c.1514_1515del | XP_011512644.1:p.His505ArgfsTer29 |