Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966086_37966087delinsCA , CM000670.2:g.37966086_37966087delinsCA | GRCh38 |
| NC_000008.10:g.37823604_37823605delinsCA , CM000670.1:g.37823604_37823605delinsCA | GRCh37 |
| NC_000008.9:g.37942761_37942762delinsCA | NCBI36 |
| NG_011936.1:g.5580_5581delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345060.5:c.383_384delinsTG MANE Select | ENSP00000343782.3:p.Leu128= | |
| ENST00000520341.2:n.511_512delinsTG | ||
| ENST00000345060.4:c.383_384delinsTG | ENSP00000343782.3:p.Leu128= | |
| ENST00000614635.1:c.383_384delinsTG | ENSP00000480325.1:p.Leu128= | |
| NM_000025.2:c.383_384delinsTG | NP_000016.1:p.Leu128= | |
| NM_000025.3:c.383_384delinsTG MANE Select | NP_000016.1:p.Leu128= |