Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002310_21002312delinsGAA , CM000664.2:g.21002310_21002312delinsGAA | GRCh38 |
| NC_000002.11:g.21225182_21225184delinsGAA , CM000664.1:g.21225182_21225184delinsGAA | GRCh37 |
| NC_000002.10:g.21078687_21078689delinsGAA | NCBI36 |
| NG_011793.1:g.46762_46764delinsTTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.13110_13112delinsTTC MANE Select | ENSP00000233242.1:p.Ala4370= | |
| ENST00000616098.4:c.13108_13110delinsTTC | ENSP00000477990.1:n.13108_13110delinsTTC | |
| NM_000384.2:c.13110_13112delinsTTC | NP_000375.2:p.Ala4370= | |
| XM_011532809.1:c.5870-3039_5870-3037delinsTTC | XP_011531111.1:n.5870-3039_5870-3037delin... | |
| NM_000384.3:c.13110_13112delinsTTC MANE Select | NP_000375.3:p.Ala4370= |