Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658459_10658460insCCA , CM000682.2:g.10658459_10658460insCCA | GRCh38 |
| NC_000020.10:g.10639107_10639108insCCA , CM000682.1:g.10639107_10639108insCCA | GRCh37 |
| NC_000020.9:g.10587107_10587108insCCA | NCBI36 |
| NG_007496.1:g.20587_20588insTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.694+8_694+9insTGG MANE Select | ENSP00000254958.4:n.694+8_694+9insTGG | |
| ENST00000254958.9:c.694+8_694+9insTGG | ENSP00000254958.4:n.694+8_694+9insTGG | |
| ENST00000423891.6:n.560+8_560+9insTGG | ||
| NM_000214.2:c.694+8_694+9insTGG | NP_000205.1:n.694+8_694+9insTGG | |
| NM_000214.3:c.694+8_694+9insTGG MANE Select | NP_000205.1:n.694+8_694+9insTGG |