Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110590441del , CM000672.2:g.110590441del | GRCh38 |
| NC_000010.10:g.112350199del , CM000672.1:g.112350199del | GRCh37 |
| NC_000010.9:g.112340189del | NCBI36 |
| NG_012217.1:g.27751del , LRG_774:g.27751del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684797.1:n.1439del | ||
| ENST00000684988.1:n.2184del | ||
| ENST00000687823.1:n.1453del | ||
| ENST00000689932.1:n.3602del | ||
| ENST00000691297.1:n.1672del | ||
| ENST00000691527.1:n.2342del | ||
| ENST00000692792.1:n.1658del | ||
| ENST00000361804.5:c.1539del MANE Select | ENSP00000354720.5:p.Asn513LysfsTer4 | |
| ENST00000361804.4:c.1539del | ENSP00000354720.4:p.Asn513LysfsTer4 | |
| NM_005445.3:c.1539del , LRG_774t1:c.1539del | NP_005436.1:p.Asn513LysfsTer4 | |
| NM_005445.4:c.1539del MANE Select | NP_005436.1:p.Asn513LysfsTer4 |