Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868889_240868890insC , CM000664.2:g.240868889_240868890insC | GRCh38 |
| NC_000002.11:g.241808306_241808307insC , CM000664.1:g.241808306_241808307insC | GRCh37 |
| NC_000002.10:g.241456979_241456980insC | NCBI36 |
| NG_008005.1:g.5145_5146insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.24_25insC MANE Select | ENSP00000302620.3:p.Thr9HisfsTer? | |
| ENST00000307503.3:c.24_25insC | ENSP00000302620.3:p.Thr9HisfsTer? | |
| ENST00000472436.1:n.44_45insC | ||
| NM_000030.2:c.24_25insC | NP_000021.1:p.Thr9HisfsTer? | |
| XR_924060.1:n.405+1343_405+1344insG | ||
| NM_000030.3:c.24_25insC MANE Select | NP_000021.1:p.Thr9HisfsTer? |