Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414398_1414399delinsTG , CM000667.2:g.1414398_1414399delinsTG | GRCh38 |
| NC_000005.9:g.1414513_1414514delinsTG , CM000667.1:g.1414513_1414514delinsTG | GRCh37 |
| NC_000005.8:g.1467513_1467514delinsTG | NCBI36 |
| NG_015885.1:g.36030_36031delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+292_1156+293delinsCA MANE Select | ENSP00000270349.9:n.1156+292_1156+293delinsCA | |
| ENST00000270349.11:c.1156+292_1156+293delinsCA | ENSP00000270349.9:n.1156+292_1156+293delinsCA | |
| NM_001044.4:c.1156+292_1156+293delinsCA | NP_001035.1:n.1156+292_1156+293delinsCA | |
| NM_001044.5:c.1156+292_1156+293delinsCA MANE Select | NP_001035.1:n.1156+292_1156+293delinsCA |