Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93998178_93998179insACA , CM000663.2:g.93998178_93998179insACA | GRCh38 |
| NC_000001.10:g.94463734_94463735insACA , CM000663.1:g.94463734_94463735insACA | GRCh37 |
| NC_000001.9:g.94236322_94236323insACA | NCBI36 |
| NG_009073.1:g.127971_127972insTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6480-69_6480-68insTGT MANE Select | ENSP00000359245.3:n.6480-69_6480-68insTGT | |
| ENST00000370225.3:c.6480-69_6480-68insTGT | ENSP00000359245.3:n.6480-69_6480-68insTGT | |
| ENST00000536513.5:c.2856-69_2856-68insTGT | ENSP00000439707.2:n.2856-69_2856-68insTGT | |
| NM_000350.2:c.6480-69_6480-68insTGT | NP_000341.2:n.6480-69_6480-68insTGT | |
| NM_000350.3:c.6480-69_6480-68insTGT MANE Select | NP_000341.2:n.6480-69_6480-68insTGT |