Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117807296_117807297del , CM000670.2:g.117807296_117807297del | GRCh38 |
| NC_000008.10:g.118819535_118819536del , CM000670.1:g.118819535_118819536del | GRCh37 |
| NC_000008.9:g.118888716_118888717del | NCBI36 |
| NG_007455.2:g.309525_309526del , LRG_493:g.309525_309526del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1272_1273del | ||
| ENST00000378204.7:c.1805_1806del MANE Select | ENSP00000367446.3:p.Ser602Ter | |
| ENST00000378204.6:c.1805_1806del | ENSP00000367446.2:p.Ser602Ter | |
| ENST00000437196.1:c.*696_*697del | ENSP00000407299.1:n.*696_*697del | |
| NM_000127.2:c.1805_1806del , LRG_493t1:c.1805_1806del | NP_000118.2:p.Ser602Ter | |
| NM_000127.3:c.1805_1806del MANE Select | NP_000118.2:p.Ser602Ter |