Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70170730_70175461del , CM000679.2:g.70170730_70175461del | GRCh38 |
| NC_000017.10:g.68166871_68171602del , CM000679.1:g.68166871_68171602del | GRCh37 |
| NC_000017.9:g.65678466_65683197del | NCBI36 |
| NG_008798.1:g.6196_10927del , LRG_328:g.6196_10927del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.-217+1029_422del | ||
| ENST00000243457.3:c.-217+1029_422del | ||
| ENST00000535240.1:c.-217+1873_422del | ||
| NM_000891.2:c.-217+1029_422del , LRG_328t1:c.-217+1029_422del | ||
| XM_011524779.1:c.-217+1873_422del | ||
| NM_000891.3:c.-217+1029_422del |