Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320445_159320449dup , CM000667.2:g.159320445_159320449dup | GRCh38 |
| NC_000005.9:g.158747453_158747457dup , CM000667.1:g.158747453_158747457dup | GRCh37 |
| NC_000005.8:g.158680031_158680035dup | NCBI36 |
| NG_009618.1:g.15025_15029dup , LRG_71:g.15025_15029dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-77_-73dup | ENSP00000512849.1:n.-77_-73dup | |
| ENST00000696751.1:c.*49_*53dup | ENSP00000512850.1:n.*49_*53dup | |
| ENST00000231228.3:c.554_558dup MANE Select | ENSP00000231228.2:p.Tyr187ArgfsTer? | |
| ENST00000231228.2:c.554_558dup | ENSP00000231228.2:p.Tyr187ArgfsTer? | |
| NM_002187.2:c.554_558dup , LRG_71t1:c.554_558dup | NP_002178.2:p.Tyr187ArgfsTer? | |
| NM_002187.3:c.554_558dup MANE Select | NP_002178.2:p.Tyr187ArgfsTer? |