Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431723_229431726dup , CM000663.2:g.229431723_229431726dup | GRCh38 |
| NC_000001.10:g.229567470_229567473dup , CM000663.1:g.229567470_229567473dup | GRCh37 |
| NC_000001.9:g.227634093_227634096dup | NCBI36 |
| NG_006672.1:g.7372_7375dup , LRG_429:g.7372_7375dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.986_989dup | ENSP00000355644.4:p.Lys330AsnfsTer? | |
| ENST00000684723.1:c.851_854dup | ENSP00000508084.1:p.Lys285AsnfsTer? | |
| ENST00000366683.3:c.617_620dup | ENSP00000355644.3:p.Lys207AsnfsTer? | |
| ENST00000366684.7:c.986_989dup MANE Select | ENSP00000355645.3:p.Lys330AsnfsTer? | |
| NM_001100.3:c.986_989dup , LRG_429t1:c.986_989dup | NP_001091.1:p.Lys330AsnfsTer? | |
| NM_001100.4:c.986_989dup MANE Select | NP_001091.1:p.Lys330AsnfsTer? |