Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32337284_32337285insAA , CM000669.2:g.32337284_32337285insAA | GRCh38 |
| NC_000007.13:g.32376896_32376897insAA , CM000669.1:g.32376896_32376897insAA | GRCh37 |
| NC_000007.12:g.32343421_32343422insAA | NCBI36 |
| NG_051183.1:g.95940_95941insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672256.1:c.310+90537_310+90538insTT | ENSP00000499831.1:n.310+90537_310+90538insTT | |
| NM_001322059.1:c.310+90537_310+90538insTT | NP_001308988.1:n.310+90537_310+90538insTT | |
| NM_001322059.2:c.310+90537_310+90538insTT | NP_001308988.1:n.310+90537_310+90538insTT |