Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966158_37966184delinsCGGCCAGTGGCCAGTCAGCGCCAAGGT , CM000670.2:g.37966158_37966184delinsCGGCCAGTGGCCAGTCAGCGCCAAGGT | GRCh38 |
| NC_000008.10:g.37823676_37823702delinsCGGCCAGTGGCCAGTCAGCGCCAAGGT , CM000670.1:g.37823676_37823702delinsCGGCCAGTGGCCAGTCAGCGCCAAGGT | GRCh37 |
| NC_000008.9:g.37942833_37942859delinsCGGCCAGTGGCCAGTCAGCGCCAAGGT | NCBI36 |
| NG_011936.1:g.5483_5509delinsACCTTGGCGCTGACTGGCCACTGGCCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345060.5:c.286_312delinsACCTTGGCGCTGACTGGCCACTGGCCG MANE Select | ENSP00000343782.3:p.Thr96= | |
| ENST00000520341.2:n.414_440delinsACCTTGGCGCTGACTGGCCACTGGCCG | ||
| ENST00000345060.4:c.286_312delinsACCTTGGCGCTGACTGGCCACTGGCCG | ENSP00000343782.3:p.Thr96= | |
| ENST00000614635.1:c.286_312delinsACCTTGGCGCTGACTGGCCACTGGCCG | ENSP00000480325.1:p.Thr96= | |
| NM_000025.2:c.286_312delinsACCTTGGCGCTGACTGGCCACTGGCCG | NP_000016.1:p.Thr96= | |
| NM_000025.3:c.286_312delinsACCTTGGCGCTGACTGGCCACTGGCCG MANE Select | NP_000016.1:p.Thr96= |