Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154896185_154896186insGT , CM000685.2:g.154896185_154896186insGT | GRCh38 |
| NC_000023.10:g.154124460_154124461insGT , CM000685.1:g.154124460_154124461insGT | GRCh37 |
| NC_000023.9:g.153777654_153777655insGT | NCBI36 |
| NG_011403.1:g.131538_131539insAC | |
| NG_011403.2:g.131538_131539insAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6320_6321insAC MANE Select | ENSP00000353393.4:p.Ala2108LeufsTer? | |
| ENST00000360256.8:c.6320_6321insAC | ENSP00000353393.4:p.Ala2108LeufsTer? | |
| NM_000132.3:c.6320_6321insAC | NP_000123.1:p.Ala2108LeufsTer? | |
| XM_011531126.1:c.6215_6216insAC | XP_011529428.1:p.Ala2073LeufsTer? | |
| NM_000132.4:c.6320_6321insAC MANE Select | NP_000123.1:p.Ala2108LeufsTer? |