Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19466327_19466364del , CM000686.2:g.19466327_19466364del | GRCh38 |
| NC_000024.9:g.21628213_21628250del , CM000686.1:g.21628213_21628250del | GRCh37 |
| NC_000024.8:g.20087601_20087638del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.1660+94_1660+131del | ||
| ENST00000400605.5:n.1654+94_1654+131del | ||
| ENST00000441139.5:n.1671+94_1671+131del | ||
| ENST00000513194.1:n.4579+82_4579+119del | ||
| NR_002923.2:n.1671+94_1671+131del | ||
| NR_033732.1:n.1671+94_1671+131del |