Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837164_117837169del , CM000670.2:g.117837164_117837169del | GRCh38 |
| NC_000008.10:g.118849403_118849408del , CM000670.1:g.118849403_118849408del | GRCh37 |
| NC_000008.9:g.118918584_118918589del | NCBI36 |
| NG_007455.2:g.279651_279656del , LRG_493:g.279651_279656del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.462_467del | ||
| ENST00000378204.7:c.995_1000del MANE Select | ENSP00000367446.3:p.Thr332_Cys334delinsSer | |
| ENST00000436216.2:c.363_368del | ||
| ENST00000378204.6:c.995_1000del | ENSP00000367446.2:p.Thr332_Cys334delinsSer | |
| ENST00000436216.1:c.363_368del | ||
| ENST00000437196.1:c.74-1618_74-1613del | ENSP00000407299.1:n.74-1618_74-1613del | |
| NM_000127.2:c.995_1000del , LRG_493t1:c.995_1000del | NP_000118.2:p.Thr332_Cys334delinsSer | |
| NM_000127.3:c.995_1000del MANE Select | NP_000118.2:p.Thr332_Cys334delinsSer |