Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672277_119672278del , CM000672.2:g.119672277_119672278del | GRCh38 |
| NC_000010.10:g.121431789_121431790del , CM000672.1:g.121431789_121431790del | GRCh37 |
| NC_000010.9:g.121421779_121421780del | NCBI36 |
| NG_016125.1:g.25908_25909del , LRG_742:g.25908_25909del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.530_531del MANE Select | ENSP00000358081.4:p.Ser177Ter | |
| ENST00000369085.7:c.530_531del | ENSP00000358081.3:p.Ser177Ter | |
| ENST00000450186.1:c.356_357del | ENSP00000410036.1:p.Ser119Ter | |
| NM_004281.3:c.530_531del , LRG_742t1:c.530_531del | NP_004272.2:p.Ser177Ter | |
| XM_005270287.1:c.530_531del | XP_005270344.1:p.Ser177Ter | |
| XM_005270287.2:c.530_531del | XP_005270344.1:p.Ser177Ter | |
| NM_004281.4:c.530_531del MANE Select | NP_004272.2:p.Ser177Ter |