Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401395_94401396del , CM000669.2:g.94401395_94401396del | GRCh38 |
| NC_000007.13:g.94030707_94030708del , CM000669.1:g.94030707_94030708del | GRCh37 |
| NC_000007.12:g.93868643_93868644del | NCBI36 |
| NG_007405.1:g.11835_11836del , LRG_2:g.11835_11836del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.226-172_226-171del MANE Select | ENSP00000297268.6:n.226-172_226-171del | |
| ENST00000297268.10:c.226-172_226-171del | ENSP00000297268.6:n.226-172_226-171del | |
| ENST00000620463.1:c.220-172_220-171del | ENSP00000477719.1:n.220-172_220-171del | |
| NM_000089.3:c.226-172_226-171del , LRG_2t1:c.226-172_226-171del | NP_000080.2:n.226-172_226-171del | |
| NM_000089.4:c.226-172_226-171del MANE Select | NP_000080.2:n.226-172_226-171del |