Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002141_21002142insC , CM000664.2:g.21002141_21002142insC | GRCh38 |
| NC_000002.11:g.21225013_21225014insC , CM000664.1:g.21225013_21225014insC | GRCh37 |
| NC_000002.10:g.21078518_21078519insC | NCBI36 |
| NG_011793.1:g.46932_46933insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13280_13281insG MANE Select | ENSP00000233242.1:p.Ser4428GlnfsTer4 | |
| ENST00000616098.4:c.13278_13279insG | ENSP00000477990.1:n.13278_13279insG | |
| NM_000384.2:c.13280_13281insG | NP_000375.2:p.Ser4428GlnfsTer4 | |
| XM_011532809.1:c.5870-2869_5870-2868insG | XP_011531111.1:n.5870-2869_5870-2868insG | |
| NM_000384.3:c.13280_13281insG MANE Select | NP_000375.3:p.Ser4428GlnfsTer4 |