Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644959dup , CM000682.2:g.10644959dup | GRCh38 |
| NC_000020.10:g.10625607dup , CM000682.1:g.10625607dup | GRCh37 |
| NC_000020.9:g.10573607dup | NCBI36 |
| NG_007496.1:g.34090dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2250dup MANE Select | ENSP00000254958.4:p.Asn751GlnfsTer5 | |
| ENST00000617965.2:n.2839dup | ||
| ENST00000254958.9:c.2250dup | ENSP00000254958.4:p.Asn751GlnfsTer5 | |
| ENST00000423891.6:n.2116dup | ||
| ENST00000488480.2:n.647dup | ||
| NM_000214.2:c.2250dup | NP_000205.1:p.Asn751GlnfsTer5 | |
| NM_000214.3:c.2250dup MANE Select | NP_000205.1:p.Asn751GlnfsTer5 |