Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35850378del , CM000681.2:g.35850378del | GRCh38 |
| NC_000019.9:g.36341280del , CM000681.1:g.36341280del | GRCh37 |
| NC_000019.8:g.41033120del | NCBI36 |
| NG_013356.2:g.23911del , LRG_693:g.23911del | |
| NG_051206.1:g.3744del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.595del MANE Select | ENSP00000368190.4:p.Glu199ArgfsTer6 | |
| ENST00000353632.6:c.595del | ENSP00000343634.5:p.Glu199ArgfsTer6 | |
| ENST00000378910.9:c.595del | ENSP00000368190.4:p.Glu199ArgfsTer6 | |
| NM_004646.3:c.595del , LRG_693t1:c.595del | NP_004637.1:p.Glu199ArgfsTer6 | |
| NM_004646.4:c.595del MANE Select | NP_004637.1:p.Glu199ArgfsTer6 |