Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868891_240868892insA , CM000664.2:g.240868891_240868892insA | GRCh38 |
| NC_000002.11:g.241808308_241808309insA , CM000664.1:g.241808308_241808309insA | GRCh37 |
| NC_000002.10:g.241456981_241456982insA | NCBI36 |
| NG_008005.1:g.5147_5148insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.26_27insA MANE Select | ENSP00000302620.3:p.Lys12GlnfsTer? | |
| ENST00000307503.3:c.26_27insA | ENSP00000302620.3:p.Lys12GlnfsTer? | |
| ENST00000472436.1:n.46_47insA | ||
| NM_000030.2:c.26_27insA | NP_000021.1:p.Lys12GlnfsTer? | |
| XR_924060.1:n.405+1341_405+1342insT | ||
| NM_000030.3:c.26_27insA MANE Select | NP_000021.1:p.Lys12GlnfsTer? |