Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644002_10644003insACA , CM000682.2:g.10644002_10644003insACA | GRCh38 |
| NC_000020.10:g.10624650_10624651insACA , CM000682.1:g.10624650_10624651insACA | GRCh37 |
| NC_000020.9:g.10572650_10572651insACA | NCBI36 |
| NG_007496.1:g.35044_35045insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2373-140_2373-139insTGT MANE Select | ENSP00000254958.4:n.2373-140_2373-139insTGT | |
| ENST00000617965.2:n.2962-140_2962-139insTGT | ||
| ENST00000254958.9:c.2373-140_2373-139insTGT | ENSP00000254958.4:n.2373-140_2373-139insTGT | |
| ENST00000423891.6:n.2239-140_2239-139insTGT | ||
| NM_000214.2:c.2373-140_2373-139insTGT | NP_000205.1:n.2373-140_2373-139insTGT | |
| NM_000214.3:c.2373-140_2373-139insTGT MANE Select | NP_000205.1:n.2373-140_2373-139insTGT |