Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23429177_23429178del , CM000676.2:g.23429177_23429178del | GRCh38 |
| NC_000014.8:g.23898386_23898387del , CM000676.1:g.23898386_23898387del | GRCh37 |
| NC_000014.7:g.22968226_22968227del | NCBI36 |
| NG_007884.1:g.11484_11485del , LRG_384:g.11484_11485del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1257+51_1257+52del MANE Select | ENSP00000347507.3:n.1257+51_1257+52del | |
| ENST00000355349.3:c.1257+51_1257+52del | ENSP00000347507.3:n.1257+51_1257+52del | |
| NM_000257.3:c.1257+51_1257+52del | NP_000248.2:n.1257+51_1257+52del | |
| XR_245686.3:n.1363+51_1363+52del | ||
| XM_017021340.1:c.1257+51_1257+52del | XP_016876829.1:n.1257+51_1257+52del | |
| NM_000257.4:c.1257+51_1257+52del MANE Select | NP_000248.2:n.1257+51_1257+52del |