Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999354_188999359delinsACTGG , CM000664.2:g.188999354_188999359delinsACTGG | GRCh38 |
| NC_000002.11:g.189864080_189864085delinsACTGG , CM000664.1:g.189864080_189864085delinsACTGG | GRCh37 |
| NC_000002.10:g.189572325_189572330delinsACTGG | NCBI36 |
| NG_007404.1:g.29982_29987delinsACTGG , LRG_3:g.29982_29987delinsACTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1993_1998delinsACTGG | ENSP00000415346.2:p.Ala665ThrfsTer? | |
| ENST00000304636.9:c.2092_2097delinsACTGG MANE Select | ENSP00000304408.4:p.Ala698ThrfsTer? | |
| ENST00000304636.7:c.2092_2097delinsACTGG | ENSP00000304408.3:p.Ala698ThrfsTer? | |
| ENST00000317840.9:c.2092_2097delinsACTGG | ENSP00000315243.6:p.Ala698ThrfsTer? | |
| NM_000090.3:c.2092_2097delinsACTGG , LRG_3t1:c.2092_2097delinsACTGG | NP_000081.1:p.Ala698ThrfsTer? | |
| NM_000090.4:c.2092_2097delinsACTGG MANE Select | NP_000081.2:p.Ala698ThrfsTer? |