Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848163dup , CM000681.2:g.35848163dup | GRCh38 |
| NC_000019.9:g.36339065dup , CM000681.1:g.36339065dup | GRCh37 |
| NC_000019.8:g.41030905dup | NCBI36 |
| NG_013356.2:g.26127dup , LRG_693:g.26127dup | |
| NG_051206.1:g.1529dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1320dup MANE Select | ENSP00000368190.4:p.Ala441ArgfsTer7 | |
| ENST00000353632.6:c.1320dup | ENSP00000343634.5:p.Ala441ArgfsTer7 | |
| ENST00000378910.9:c.1320dup | ENSP00000368190.4:p.Ala441ArgfsTer7 | |
| ENST00000592132.1:n.327dup | ||
| NM_004646.3:c.1320dup , LRG_693t1:c.1320dup | NP_004637.1:p.Ala441ArgfsTer7 | |
| NM_004646.4:c.1320dup MANE Select | NP_004637.1:p.Ala441ArgfsTer7 |