Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111358_118111362delinsAAAAG , CM000670.2:g.118111358_118111362delinsAAAAG | GRCh38 |
| NC_000008.10:g.119123597_119123601delinsAAAAG , CM000670.1:g.119123597_119123601delinsAAAAG | GRCh37 |
| NC_000008.9:g.119192778_119192782delinsAAAAG | NCBI36 |
| NG_007455.2:g.5458_5462delinsCTTTT , LRG_493:g.5458_5462delinsCTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-316_-312delinsCTTTT MANE Select | ENSP00000367446.3:n.-316_-312delinsCTTTT | |
| ENST00000378204.6:c.-316_-312delinsCTTTT | ENSP00000367446.2:n.-316_-312delinsCTTTT | |
| NM_000127.2:c.-316_-312delinsCTTTT , LRG_493t1:c.-316_-312delinsCTTTT | NP_000118.2:n.-316_-312delinsCTTTT | |
| NM_000127.3:c.-316_-312delinsCTTTT MANE Select | NP_000118.2:n.-316_-312delinsCTTTT |