Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837107_117837111del , CM000670.2:g.117837107_117837111del | GRCh38 |
| NC_000008.10:g.118849346_118849350del , CM000670.1:g.118849346_118849350del | GRCh37 |
| NC_000008.9:g.118918527_118918531del | NCBI36 |
| NG_007455.2:g.279709_279713del , LRG_493:g.279709_279713del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.520_523+1del | ||
| ENST00000378204.7:c.1053_1056+1del | ||
| ENST00000436216.2:c.421_424+1del | ||
| ENST00000378204.6:c.1053_1056+1del | ||
| ENST00000436216.1:c.421_424+1del | ||
| ENST00000437196.1:c.74-1560_74-1556del | ENSP00000407299.1:n.74-1560_74-1556del | |
| NM_000127.2:c.1053_1056+1del , LRG_493t1:c.1053_1056+1del | ||
| NM_000127.3:c.1053_1056+1del |