Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110076_118110079del , CM000670.2:g.118110076_118110079del | GRCh38 |
| NC_000008.10:g.119122315_119122318del , CM000670.1:g.119122315_119122318del | GRCh37 |
| NC_000008.9:g.119191496_119191499del | NCBI36 |
| NG_007455.2:g.6743_6746del , LRG_493:g.6743_6746del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.962+8_962+11del MANE Select | NP_000118.2:n.962+8_962+11del |
| ENST00000378204.7:c.962+8_962+11del MANE Select | ENSP00000367446.3:n.962+8_962+11del |
| NM_000127.2:c.962+8_962+11del , LRG_493t1:c.962+8_962+11del | NP_000118.2:n.962+8_962+11del |
| ENST00000378204.6:c.962+8_962+11del | ENSP00000367446.2:n.962+8_962+11del |
| ENST00000436216.1:c.330+8_330+11del | |
| ENST00000436216.2:c.330+8_330+11del | |
| ENST00000437196.1:c.73+897_73+900del | ENSP00000407299.1:n.73+897_73+900del |