Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152312304_152312305delinsAC , CM000663.2:g.152312304_152312305delinsAC | GRCh38 |
| NC_000001.10:g.152284780_152284781delinsAC , CM000663.1:g.152284780_152284781delinsAC | GRCh37 |
| NC_000001.9:g.150551404_150551405delinsAC | NCBI36 |
| NG_016190.1:g.17899_17900delinsGT , LRG_1028:g.17899_17900delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.2581_2582delinsGT MANE Select | ENSP00000357789.1:p.Val861= | |
| ENST00000368799.1:c.2581_2582delinsGT | ENSP00000357789.1:p.Val861= | |
| NM_002016.1:c.2581_2582delinsGT , LRG_1028t1:c.2581_2582delinsGT | NP_002007.1:p.Val861= | |
| XM_011509329.1:c.2581_2582delinsGT | XP_011507631.1:p.Val861= | |
| NM_002016.2:c.2581_2582delinsGT MANE Select | NP_002007.1:p.Val861= |