Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672434_119672440del , CM000672.2:g.119672434_119672440del | GRCh38 |
| NC_000010.10:g.121431946_121431952del , CM000672.1:g.121431946_121431952del | GRCh37 |
| NC_000010.9:g.121421936_121421942del | NCBI36 |
| NG_016125.1:g.26065_26071del , LRG_742:g.26065_26071del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.687_693del MANE Select | ENSP00000358081.4:p.Gln229HisfsTer? | |
| ENST00000369085.7:c.687_693del | ENSP00000358081.3:p.Gln229HisfsTer? | |
| ENST00000450186.1:c.513_519del | ENSP00000410036.1:p.Gln171HisfsTer? | |
| NM_004281.3:c.687_693del , LRG_742t1:c.687_693del | NP_004272.2:p.Gln229HisfsTer? | |
| XM_005270287.1:c.687_693del | XP_005270344.1:p.Gln229HisfsTer? | |
| XM_005270287.2:c.687_693del | XP_005270344.1:p.Gln229HisfsTer? | |
| NM_004281.4:c.687_693del MANE Select | NP_004272.2:p.Gln229HisfsTer? |