Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431994_229431995delinsTT , CM000663.2:g.229431994_229431995delinsTT | GRCh38 |
| NC_000001.10:g.229567741_229567742delinsTT , CM000663.1:g.229567741_229567742delinsTT | GRCh37 |
| NC_000001.9:g.227634364_227634365delinsTT | NCBI36 |
| NG_006672.1:g.7102_7103delinsAA , LRG_429:g.7102_7103delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.807_808delinsAA | ENSP00000355644.4:p.Gly270Ser | |
| ENST00000684723.1:c.672_673delinsAA | ENSP00000508084.1:p.Gly225Ser | |
| ENST00000366683.3:c.480-133_480-132delinsAA | ENSP00000355644.3:n.480-133_480-132delinsAA | |
| ENST00000366684.7:c.807_808delinsAA MANE Select | ENSP00000355645.3:p.Gly270Ser | |
| NM_001100.3:c.807_808delinsAA , LRG_429t1:c.807_808delinsAA | NP_001091.1:p.Gly270Ser | |
| NM_001100.4:c.807_808delinsAA MANE Select | NP_001091.1:p.Gly270Ser |