Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431624_23431635dup , CM000676.2:g.23431624_23431635dup | GRCh38 |
| NC_000014.8:g.23900833_23900844dup , CM000676.1:g.23900833_23900844dup | GRCh37 |
| NC_000014.7:g.22970673_22970684dup | NCBI36 |
| NG_007884.1:g.9027_9038dup , LRG_384:g.9027_9038dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.682_693dup MANE Select | ENSP00000347507.3:p.Gly231_Asn232insGluAlaPheGly | |
| ENST00000355349.3:c.682_693dup | ENSP00000347507.3:p.Gly231_Asn232insGluAlaPheGly | |
| NM_000257.3:c.682_693dup | NP_000248.2:p.Gly231_Asn232insGluAlaPheGly | |
| XR_245686.3:n.788_799dup | ||
| XM_017021340.1:c.682_693dup | XP_016876829.1:p.Gly231_Asn232insGluAlaPheGly | |
| NM_000257.4:c.682_693dup MANE Select | NP_000248.2:p.Gly231_Asn232insGluAlaPheGly |