Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35842277del , CM000681.2:g.35842277del | GRCh38 |
| NC_000019.9:g.36333179del , CM000681.1:g.36333179del | GRCh37 |
| NC_000019.8:g.41025019del | NCBI36 |
| NG_013356.2:g.32016del , LRG_693:g.32016del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.2515del MANE Select | NP_004637.1:p.Gln839ArgfsTer8 |
| ENST00000378910.10:c.2515del MANE Select | ENSP00000368190.4:p.Gln839ArgfsTer8 |
| NM_004646.3:c.2515del , LRG_693t1:c.2515del | NP_004637.1:p.Gln839ArgfsTer8 |
| ENST00000353632.6:c.2515del | ENSP00000343634.5:p.Gln839ArgfsTer8 |
| ENST00000378910.9:c.2515del | ENSP00000368190.4:p.Gln839ArgfsTer8 |