Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021527_94021528insA , CM000663.2:g.94021527_94021528insA | GRCh38 |
| NC_000001.10:g.94487083_94487084insA , CM000663.1:g.94487083_94487084insA | GRCh37 |
| NC_000001.9:g.94259671_94259672insA | NCBI36 |
| NG_009073.1:g.104622_104623insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4848+112_4848+113insT MANE Select | ENSP00000359245.3:n.4848+112_4848+113insT | |
| ENST00000370225.3:c.4848+112_4848+113insT | ENSP00000359245.3:n.4848+112_4848+113insT | |
| ENST00000460514.1:n.342+112_342+113insT | ||
| ENST00000536513.5:c.1224+112_1224+113insT | ENSP00000439707.2:n.1224+112_1224+113insT | |
| NM_000350.2:c.4848+112_4848+113insT | NP_000341.2:n.4848+112_4848+113insT | |
| NM_000350.3:c.4848+112_4848+113insT MANE Select | NP_000341.2:n.4848+112_4848+113insT |