Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74422044_74422045insG , CM000685.2:g.74422044_74422045insG | GRCh38 |
| NC_000023.10:g.73641879_73641880insG , CM000685.1:g.73641879_73641880insG | GRCh37 |
| NC_000023.9:g.73558604_73558605insG | NCBI36 |
| NG_011641.1:g.5795_5796insG | |
| NG_011641.2:g.5795_5796insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.407_408insG MANE Select | ENSP00000465734.1:p.Asn136LysfsTer31 | |
| ENST00000636771.1:c.153_154insG | ||
| ENST00000587091.5:c.407_408insG | ENSP00000465734.1:p.Asn136LysfsTer31 | |
| NM_006517.4:c.407_408insG | NP_006508.2:p.Asn136LysfsTer31 | |
| XM_005262294.1:c.407_408insG | XP_005262351.1:p.Asn136LysfsTer31 | |
| XM_011531015.1:c.407_408insG | XP_011529317.1:p.Asn136LysfsTer31 | |
| NM_006517.5:c.407_408insG MANE Select | NP_006508.2:p.Asn136LysfsTer31 |