Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48587378dup , CM000681.2:g.48587378dup | GRCh38 |
| NC_000019.9:g.49090635dup , CM000681.1:g.49090635dup | GRCh37 |
| NC_000019.8:g.53782447dup | NCBI36 |
| NG_029063.1:g.40207dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000201586.7:c.364dup MANE Select | ENSP00000201586.2:p.Met122AsnfsTer? | |
| ENST00000201586.6:c.364dup | ENSP00000201586.1:p.Met122AsnfsTer? | |
| ENST00000323090.4:c.319dup | ENSP00000312880.3:p.Met107AsnfsTer? | |
| NM_004605.2:c.319dup | NP_004596.2:p.Met107AsnfsTer? | |
| NM_177973.1:c.364dup | NP_814444.1:p.Met122AsnfsTer? | |
| NM_177973.2:c.364dup MANE Select | NP_814444.1:p.Met122AsnfsTer? |