Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21009480_21009481delinsGC , CM000664.2:g.21009480_21009481delinsGC | GRCh38 |
| NC_000002.11:g.21232352_21232353delinsGC , CM000664.1:g.21232352_21232353delinsGC | GRCh37 |
| NC_000002.10:g.21085857_21085858delinsGC | NCBI36 |
| NG_011793.1:g.39593_39594delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.7387_7388delinsGC MANE Select | ENSP00000233242.1:p.Ala2463= | |
| ENST00000616098.4:c.7387_7388delinsGC | ENSP00000477990.1:p.Ala2463= | |
| NM_000384.2:c.7387_7388delinsGC | NP_000375.2:p.Ala2463= | |
| XM_011532809.1:c.5869+1252_5869+1253delinsGC | XP_011531111.1:n.5869+1252_5869+1253delinsGC | |
| NM_000384.3:c.7387_7388delinsGC MANE Select | NP_000375.3:p.Ala2463= |