Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4110577del , CM000681.2:g.4110577del | GRCh38 |
| NC_000019.9:g.4110575del , CM000681.1:g.4110575del | GRCh37 |
| NC_000019.8:g.4061575del | NCBI36 |
| NG_007996.1:g.18553del , LRG_750:g.18553del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.822del | ||
| ENST00000687128.1:n.822del | ||
| ENST00000262948.10:c.383del MANE Select | ENSP00000262948.4:p.Pro128ArgfsTer? | |
| ENST00000262948.9:c.383del | ENSP00000262948.3:p.Pro128ArgfsTer? | |
| ENST00000394867.8:c.92del | ENSP00000378336.1:p.Pro31ArgfsTer? | |
| ENST00000599345.1:n.580del | ||
| NM_030662.3:c.383del , LRG_750t1:c.383del | NP_109587.1:p.Pro128ArgfsTer? | |
| XM_006722799.2:c.383del | XP_006722862.1:p.Pro128ArgfsTer? | |
| XM_017026989.1:c.383del | XP_016882478.1:p.Pro128ArgfsTer? | |
| XM_017026990.1:c.383del | XP_016882479.1:p.Pro128ArgfsTer? | |
| XM_017026991.1:c.383del | XP_016882480.1:p.Pro128ArgfsTer? | |
| NM_030662.4:c.383del MANE Select | NP_109587.1:p.Pro128ArgfsTer? |