Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868893_240868894delinsA , CM000664.2:g.240868893_240868894delinsA | GRCh38 |
| NC_000002.11:g.241808310_241808311delinsA , CM000664.1:g.241808310_241808311delinsA | GRCh37 |
| NC_000002.10:g.241456983_241456984delinsA | NCBI36 |
| NG_008005.1:g.5149_5150delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.28_29delinsA MANE Select | ENSP00000302620.3:p.Pro10ThrfsTer? | |
| ENST00000307503.3:c.28_29delinsA | ENSP00000302620.3:p.Pro10ThrfsTer? | |
| ENST00000472436.1:n.48_49delinsA | ||
| NM_000030.2:c.28_29delinsA | NP_000021.1:p.Pro10ThrfsTer? | |
| XR_924060.1:n.405+1339_405+1340delinsT | ||
| NM_000030.3:c.28_29delinsA MANE Select | NP_000021.1:p.Pro10ThrfsTer? |