Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868896_240868897insT , CM000664.2:g.240868896_240868897insT | GRCh38 |
| NC_000002.11:g.241808313_241808314insT , CM000664.1:g.241808313_241808314insT | GRCh37 |
| NC_000002.10:g.241456986_241456987insT | NCBI36 |
| NG_008005.1:g.5152_5153insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.31_32insT MANE Select | ENSP00000302620.3:p.Pro11LeufsTer? | |
| ENST00000307503.3:c.31_32insT | ENSP00000302620.3:p.Pro11LeufsTer? | |
| ENST00000472436.1:n.51_52insT | ||
| NM_000030.2:c.31_32insT | NP_000021.1:p.Pro11LeufsTer? | |
| XR_924060.1:n.405+1336_405+1337insA | ||
| NM_000030.3:c.31_32insT MANE Select | NP_000021.1:p.Pro11LeufsTer? |