Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021510_94021511insAC , CM000663.2:g.94021510_94021511insAC | GRCh38 |
| NC_000001.10:g.94487066_94487067insAC , CM000663.1:g.94487066_94487067insAC | GRCh37 |
| NC_000001.9:g.94259654_94259655insAC | NCBI36 |
| NG_009073.1:g.104640_104641insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4849-101_4849-100insTG MANE Select | ENSP00000359245.3:n.4849-101_4849-100insTG | |
| ENST00000370225.3:c.4849-101_4849-100insTG | ENSP00000359245.3:n.4849-101_4849-100insTG | |
| ENST00000460514.1:n.343-101_343-100insTG | ||
| ENST00000536513.5:c.1225-101_1225-100insTG | ENSP00000439707.2:n.1225-101_1225-100insTG | |
| NM_000350.2:c.4849-101_4849-100insTG | NP_000341.2:n.4849-101_4849-100insTG | |
| NM_000350.3:c.4849-101_4849-100insTG MANE Select | NP_000341.2:n.4849-101_4849-100insTG |