Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19466314_19466350del , CM000686.2:g.19466314_19466350del | GRCh38 |
| NC_000024.9:g.21628200_21628236del , CM000686.1:g.21628200_21628236del | GRCh37 |
| NC_000024.8:g.20087588_20087624del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.1660+128_1660+164del | ||
| ENST00000400605.5:n.1654+128_1654+164del | ||
| ENST00000441139.5:n.1671+128_1671+164del | ||
| ENST00000513194.1:n.4579+116_4579+152del | ||
| NR_002923.2:n.1671+128_1671+164del | ||
| NR_033732.1:n.1671+128_1671+164del |