Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955963_19958022dup , CM000670.2:g.19955963_19958022dup | GRCh38 |
| NC_000008.10:g.19813474_19815533dup , CM000670.1:g.19813474_19815533dup | GRCh37 |
| NC_000008.9:g.19857754_19859813dup | NCBI36 |
| NG_008855.1:g.21893_23952dup | |
| NG_008855.2:g.59247_61306dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.898_1019-1238dup | ||
| ENST00000311322.8:c.898_1019-1238dup | ||
| NM_000237.2:c.898_1019-1238dup | ||
| NM_000237.3:c.898_1019-1238dup |