Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24799688_24799690dup , CM000666.2:g.24799688_24799690dup | GRCh38 |
| NC_000004.11:g.24801310_24801312dup , CM000666.1:g.24801310_24801312dup | GRCh37 |
| NC_000004.10:g.24410408_24410410dup | NCBI36 |
| NG_012213.1:g.9226_9228dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.167_169dup MANE Select | ENSP00000371554.3:p.Asp56_Gly57insAsp | |
| ENST00000382120.3:c.167_169dup | ENSP00000371554.3:p.Asp56_Gly57insAsp | |
| NM_003102.2:c.167_169dup | NP_003093.2:p.Asp56_Gly57insAsp | |
| XR_427488.1:n.357_359dup | ||
| NM_003102.3:c.167_169dup | NP_003093.2:p.Asp56_Gly57insAsp | |
| NM_003102.4:c.167_169dup MANE Select | NP_003093.2:p.Asp56_Gly57insAsp |