Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136676051_136677087del , CM000671.2:g.136676051_136677087del | GRCh38 |
| NC_000009.11:g.139570503_139571539del , CM000671.1:g.139570503_139571539del | GRCh37 |
| NC_000009.10:g.138690324_138691360del | NCBI36 |
| NG_008090.1:g.15373_16409del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371696.7:c.366_588+534del | ||
| ENST00000371694.7:c.366_492+910del | ||
| ENST00000371696.6:c.366_588+534del | ||
| ENST00000472820.1:n.294_516+534del | ||
| ENST00000538402.1:c.366_588+534del | ||
| NM_001012727.1:c.366_492+910del | ||
| NM_006412.3:c.366_588+534del | ||
| NM_006412.4:c.366_588+534del | ||
| NM_001012727.2:c.366_492+910del |