Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12113066_12113067insC , CM000672.2:g.12113066_12113067insC | GRCh38 |
| NC_000010.10:g.12155065_12155066insC , CM000672.1:g.12155065_12155066insC | GRCh37 |
| NC_000010.9:g.12195071_12195072insC | NCBI36 |
| NG_033248.1:g.49150_49151insC |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018706.7:c.2319+2_2319+3insC MANE Select | NP_061176.4:n.2319+2_2319+3insC |
| ENST00000263035.9:c.2319+2_2319+3insC MANE Select | ENSP00000263035.4:n.2319+2_2319+3insC |
| NM_018706.6:c.2319+2_2319+3insC | NP_061176.3:n.2319+2_2319+3insC |
| ENST00000263035.8:c.2319+2_2319+3insC | ENSP00000263035.4:n.2319+2_2319+3insC |