Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835532_117835542del , CM000670.2:g.117835532_117835542del | GRCh38 |
| NC_000008.10:g.118847771_118847781del , CM000670.1:g.118847771_118847781del | GRCh37 |
| NC_000008.9:g.118916952_118916962del | NCBI36 |
| NG_007455.2:g.281279_281289del , LRG_493:g.281279_281289del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.534_544del | ||
| ENST00000378204.7:c.1067_1077del MANE Select | ENSP00000367446.3:p.Val356AlafsTer11 | |
| ENST00000436216.2:c.435_445del | ||
| ENST00000378204.6:c.1067_1077del | ENSP00000367446.2:p.Val356AlafsTer11 | |
| ENST00000436216.1:c.435_445del | ||
| ENST00000437196.1:c.84_94del | ENSP00000407299.1:p.Pro29SerfsTer12 | |
| NM_000127.2:c.1067_1077del , LRG_493t1:c.1067_1077del | NP_000118.2:p.Val356AlafsTer11 | |
| NM_000127.3:c.1067_1077del MANE Select | NP_000118.2:p.Val356AlafsTer11 |