Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175565_70175570dup , CM000679.2:g.70175565_70175570dup | GRCh38 |
| NC_000017.10:g.68171706_68171711dup , CM000679.1:g.68171706_68171711dup | GRCh37 |
| NC_000017.9:g.65683301_65683306dup | NCBI36 |
| NG_008798.1:g.11031_11036dup , LRG_328:g.11031_11036dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.526_531dup MANE Select | ENSP00000243457.2:p.Gly177_Ala178insIleGl... | |
| ENST00000243457.3:c.526_531dup | ENSP00000243457.2:p.Gly177_Ala178insIleGl... | |
| ENST00000535240.1:c.526_531dup | ENSP00000441848.1:p.Gly177_Ala178insIleGl... | |
| NM_000891.2:c.526_531dup , LRG_328t1:c.526_531dup | NP_000882.1:p.Gly177_Ala178insIleGly | |
| XM_011524779.1:c.526_531dup | XP_011523081.1:p.Gly177_Ala178insIleGly | |
| NM_000891.3:c.526_531dup MANE Select | NP_000882.1:p.Gly177_Ala178insIleGly |