Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111359_118111362delinsAAAG , CM000670.2:g.118111359_118111362delinsAAAG | GRCh38 |
| NC_000008.10:g.119123598_119123601delinsAAAG , CM000670.1:g.119123598_119123601delinsAAAG | GRCh37 |
| NC_000008.9:g.119192779_119192782delinsAAAG | NCBI36 |
| NG_007455.2:g.5458_5461delinsCTTT , LRG_493:g.5458_5461delinsCTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-316_-313delinsCTTT MANE Select | ENSP00000367446.3:n.-316_-313delinsCTTT | |
| ENST00000378204.6:c.-316_-313delinsCTTT | ENSP00000367446.2:n.-316_-313delinsCTTT | |
| NM_000127.2:c.-316_-313delinsCTTT , LRG_493t1:c.-316_-313delinsCTTT | NP_000118.2:n.-316_-313delinsCTTT | |
| NM_000127.3:c.-316_-313delinsCTTT MANE Select | NP_000118.2:n.-316_-313delinsCTTT |