Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63961333dup , CM000679.2:g.63961333dup | GRCh38 |
| NC_000017.10:g.62038693dup , CM000679.1:g.62038693dup | GRCh37 |
| NC_000017.9:g.59392425dup | NCBI36 |
| NG_011699.1:g.16587dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1706dup MANE Select | ENSP00000396320.1:p.Asn569LysfsTer? | |
| ENST00000578147.5:c.1706dup | ENSP00000463963.1:p.Asn569LysfsTer? | |
| ENST00000581514.1:n.362dup | ||
| NM_000334.4:c.1706dup MANE Select | NP_000325.4:p.Asn569LysfsTer? | |
| XM_005257566.3:c.1706dup | XP_005257623.1:p.Asn569LysfsTer? | |
| XR_934910.1:n.124+611dup | ||
| XR_001752969.1:n.1276+611dup | ||
| XR_934910.2:n.1276+611dup |