Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835444del , CM000670.2:g.117835444del | GRCh38 |
| NC_000008.10:g.118847683del , CM000670.1:g.118847683del | GRCh37 |
| NC_000008.9:g.118916864del | NCBI36 |
| NG_007455.2:g.281377del , LRG_493:g.281377del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684189.1:n.631+1del | ||
| ENST00000378204.7:c.1164+1del | ||
| ENST00000436216.2:c.532+1del | ||
| ENST00000378204.6:c.1164+1del | ||
| ENST00000436216.1:c.532+1del | ||
| ENST00000437196.1:c.*55+1del | ||
| NM_000127.2:c.1164+1del , LRG_493t1:c.1164+1del | ||
| NM_000127.3:c.1164+1del |