Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419691_23419695del , CM000676.2:g.23419691_23419695del | GRCh38 |
| NC_000014.8:g.23888900_23888904del , CM000676.1:g.23888900_23888904del | GRCh37 |
| NC_000014.7:g.22958740_22958744del | NCBI36 |
| NG_007884.1:g.20971_20975del , LRG_384:g.20971_20975del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3727-82_3727-78del MANE Select | ENSP00000347507.3:n.3727-82_3727-78del | |
| ENST00000355349.3:c.3727-82_3727-78del | ENSP00000347507.3:n.3727-82_3727-78del | |
| NM_000257.3:c.3727-82_3727-78del | NP_000248.2:n.3727-82_3727-78del | |
| XM_017021340.1:c.3727-82_3727-78del | XP_016876829.1:n.3727-82_3727-78del | |
| NM_000257.4:c.3727-82_3727-78del MANE Select | NP_000248.2:n.3727-82_3727-78del |