Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202377329_202377330del , CM000664.2:g.202377329_202377330del | GRCh38 |
| NC_000002.11:g.203242052_203242053del , CM000664.1:g.203242052_203242053del | GRCh37 |
| NC_000002.10:g.202950297_202950298del | NCBI36 |
| NG_009363.1:g.6003_6004del , LRG_712:g.6003_6004del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.-146_-145del MANE Select | ENSP00000363708.4:n.-146_-145del | |
| ENST00000374580.8:c.-146_-145del | ENSP00000363708.4:n.-146_-145del | |
| NM_001204.6:c.-146_-145del , LRG_712t1:c.-146_-145del | NP_001195.2:n.-146_-145del | |
| XM_011511687.1:c.-146_-145del | XP_011509989.1:n.-146_-145del | |
| XM_011511688.1:c.-146_-145del | XP_011509990.1:n.-146_-145del | |
| NM_001204.7:c.-146_-145del MANE Select | NP_001195.2:n.-146_-145del |