Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310880_152310882delinsACT , CM000663.2:g.152310880_152310882delinsACT | GRCh38 |
| NC_000001.10:g.152283356_152283358delinsACT , CM000663.1:g.152283356_152283358delinsACT | GRCh37 |
| NC_000001.9:g.150549980_150549982delinsACT | NCBI36 |
| NG_016190.1:g.19322_19324delinsAGT , LRG_1028:g.19322_19324delinsAGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368799.2:c.4004_4006delinsAGT MANE Select | ENSP00000357789.1:p.Glu1335= | |
| ENST00000368799.1:c.4004_4006delinsAGT | ENSP00000357789.1:p.Glu1335= | |
| NM_002016.1:c.4004_4006delinsAGT , LRG_1028t1:c.4004_4006delinsAGT | NP_002007.1:p.Glu1335= | |
| XM_011509329.1:c.4004_4006delinsAGT | XP_011507631.1:p.Glu1335= | |
| NM_002016.2:c.4004_4006delinsAGT MANE Select | NP_002007.1:p.Glu1335= |