Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868897_240868898delinsTG , CM000664.2:g.240868897_240868898delinsTG | GRCh38 |
| NC_000002.11:g.241808314_241808315delinsTG , CM000664.1:g.241808314_241808315delinsTG | GRCh37 |
| NC_000002.10:g.241456987_241456988delinsTG | NCBI36 |
| NG_008005.1:g.5153_5154delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.32_33delinsTG MANE Select | ENSP00000302620.3:p.Pro11Leu | |
| ENST00000307503.3:c.32_33delinsTG | ENSP00000302620.3:p.Pro11Leu | |
| ENST00000472436.1:n.52_53delinsTG | ||
| NM_000030.2:c.32_33delinsTG | NP_000021.1:p.Pro11Leu | |
| XR_924060.1:n.405+1335_405+1336delinsCA | ||
| NM_000030.3:c.32_33delinsTG MANE Select | NP_000021.1:p.Pro11Leu |