Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965671_37965672insCCT , CM000670.2:g.37965671_37965672insCCT | GRCh38 |
| NC_000008.10:g.37823189_37823190insCCT , CM000670.1:g.37823189_37823190insCCT | GRCh37 |
| NC_000008.9:g.37942346_37942347insCCT | NCBI36 |
| NG_011936.1:g.5995_5996insAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.798_799insAGG MANE Select | ENSP00000343782.3:p.Cys266_Ala267insArg | |
| ENST00000520341.2:n.926_927insAGG | ||
| ENST00000647937.1:c.282_283insAGG | ENSP00000497740.1:p.Cys94_Ala95insArg | |
| ENST00000345060.4:c.798_799insAGG | ENSP00000343782.3:p.Cys266_Ala267insArg | |
| ENST00000520341.1:n.73_74insAGG | ||
| ENST00000614635.1:c.798_799insAGG | ENSP00000480325.1:p.Cys266_Ala267insArg | |
| NM_000025.2:c.798_799insAGG | NP_000016.1:p.Cys266_Ala267insArg | |
| NM_000025.3:c.798_799insAGG MANE Select | NP_000016.1:p.Cys266_Ala267insArg |