Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285374_40285377dup , CM000681.2:g.40285374_40285377dup | GRCh38 |
| NC_000019.9:g.40791281_40791284dup , CM000681.1:g.40791281_40791284dup | GRCh37 |
| NC_000019.8:g.45483121_45483124dup | NCBI36 |
| NG_012038.2:g.4983_4986dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392038.6:c.-280_-277dup | ENSP00000375892.2:n.-280_-277dup | |
| ENST00000424901.5:c.-280_-277dup | ENSP00000399532.2:n.-280_-277dup | |
| ENST00000578123.5:c.-85+72_-85+75dup | ENSP00000462022.1:n.-85+72_-85+75dup | |
| NM_001243027.2:c.-429_-426dup | NP_001229956.1:n.-429_-426dup | |
| NM_001243028.2:c.-336_-333dup | NP_001229957.1:n.-336_-333dup | |
| NM_001626.5:c.-280_-277dup | NP_001617.1:n.-280_-277dup | |
| XM_011526620.1:c.-85+72_-85+75dup | XP_011524922.1:n.-85+72_-85+75dup |