Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601670dup , CM000672.2:g.110601670dup | GRCh38 |
| NC_000010.10:g.112361428dup , CM000672.1:g.112361428dup | GRCh37 |
| NC_000010.9:g.112351418dup | NCBI36 |
| NG_012217.1:g.38980dup , LRG_774:g.38980dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.4911dup | ||
| ENST00000685743.1:n.2386dup | ||
| ENST00000686057.1:n.1029dup | ||
| ENST00000689321.1:n.1641dup | ||
| ENST00000689986.1:n.467dup | ||
| ENST00000361804.5:c.2678dup MANE Select | ENSP00000354720.5:p.Ile894AsnfsTer2 | |
| ENST00000361804.4:c.2678dup | ENSP00000354720.4:p.Ile894AsnfsTer2 | |
| NM_005445.3:c.2678dup , LRG_774t1:c.2678dup | NP_005436.1:p.Ile894AsnfsTer2 | |
| NM_005445.4:c.2678dup MANE Select | NP_005436.1:p.Ile894AsnfsTer2 |