Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21006887_21006888delinsGC , CM000664.2:g.21006887_21006888delinsGC | GRCh38 |
| NC_000002.11:g.21229759_21229760delinsGC , CM000664.1:g.21229759_21229760delinsGC | GRCh37 |
| NC_000002.10:g.21083264_21083265delinsGC | NCBI36 |
| NG_011793.1:g.42186_42187delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.9980_9981delinsGC MANE Select | ENSP00000233242.1:p.Ser3327= | |
| ENST00000616098.4:c.9980_9981delinsGC | ENSP00000477990.1:p.Ser3327= | |
| NM_000384.2:c.9980_9981delinsGC | NP_000375.2:p.Ser3327= | |
| XM_011532809.1:c.5869+3845_5869+3846delinsGC | XP_011531111.1:n.5869+3845_5869+3846delinsGC | |
| NM_000384.3:c.9980_9981delinsGC MANE Select | NP_000375.3:p.Ser3327= |