Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6031351_6031352insT , CM000674.2:g.6031351_6031352insT | GRCh38 |
| NC_000012.11:g.6140517_6140518insT , CM000674.1:g.6140517_6140518insT | GRCh37 |
| NC_000012.10:g.6010778_6010779insT | NCBI36 |
| NG_009072.1:g.98319_98320insA | |
| NG_009072.2:g.98319_98320insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2820+92_2820+93insA MANE Select | ENSP00000261405.5:n.2820+92_2820+93insA | |
| ENST00000261405.9:c.2820+92_2820+93insA | ENSP00000261405.5:n.2820+92_2820+93insA | |
| ENST00000538635.5:n.421-37418_421-37417insA | ||
| NM_000552.3:c.2820+92_2820+93insA | NP_000543.2:n.2820+92_2820+93insA | |
| NM_000552.4:c.2820+92_2820+93insA | NP_000543.2:n.2820+92_2820+93insA | |
| NM_000552.5:c.2820+92_2820+93insA MANE Select | NP_000543.3:n.2820+92_2820+93insA |