Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31498213_31498230dup , CM000680.2:g.31498213_31498230dup | GRCh38 |
| NC_000018.9:g.29078176_29078193dup , CM000680.1:g.29078176_29078193dup | GRCh37 |
| NC_000018.8:g.27332174_27332191dup | NCBI36 |
| NG_007072.3:g.4972_4989dup , LRG_397:g.4972_4989dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.-39_-22dup MANE Select | ENSP00000261590.8:n.-39_-22dup | |
| ENST00000261590.12:c.-39_-22dup | ENSP00000261590.8:n.-39_-22dup | |
| NM_001943.3:c.-39_-22dup , LRG_397t1:c.-39_-22dup | NP_001934.2:n.-39_-22dup | |
| NM_001943.4:c.-39_-22dup | NP_001934.2:n.-39_-22dup | |
| NM_001943.5:c.-39_-22dup MANE Select | NP_001934.2:n.-39_-22dup |