Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911849_4911850insTCC , CM000674.2:g.4911849_4911850insTCC | GRCh38 |
| NC_000012.11:g.5021015_5021016insTCC , CM000674.1:g.5021015_5021016insTCC | GRCh37 |
| NC_000012.10:g.4891276_4891277insTCC | NCBI36 |
| NG_011815.1:g.6943_6944insTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.471_472insTCC MANE Select | ENSP00000371985.3:p.Phe157_Glu158insSer | |
| ENST00000543874.3:n.105+1377_105+1378insTCC | ||
| ENST00000639306.1:c.309_310insTCC | ENSP00000492506.1:p.Phe103_Glu104insSer | |
| ENST00000382545.3:c.471_472insTCC | ENSP00000371985.3:p.Phe157_Glu158insSer | |
| ENST00000541095.1:n.105+1377_105+1378insTCC | ||
| ENST00000543874.2:n.96+1377_96+1378insTCC | ||
| NM_000217.2:c.471_472insTCC | NP_000208.2:p.Phe157_Glu158insSer | |
| NM_000217.3:c.471_472insTCC MANE Select | NP_000208.2:p.Phe157_Glu158insSer |