Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021908_94021910del , CM000663.2:g.94021908_94021910del | GRCh38 |
| NC_000001.10:g.94487464_94487466del , CM000663.1:g.94487464_94487466del | GRCh37 |
| NC_000001.9:g.94260052_94260054del | NCBI36 |
| NG_009073.1:g.104240_104242del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4709_4711del MANE Select | ENSP00000359245.3:p.Pro1570_Ile1571delinsLeu | |
| ENST00000370225.3:c.4709_4711del | ENSP00000359245.3:p.Pro1570_Ile1571delinsLeu | |
| ENST00000460514.1:n.203_205del | ||
| ENST00000536513.5:c.1085_1087del | ENSP00000439707.2:p.Pro362_Ile363delinsLeu | |
| NM_000350.2:c.4709_4711del | NP_000341.2:p.Pro1570_Ile1571delinsLeu | |
| NM_000350.3:c.4709_4711del MANE Select | NP_000341.2:p.Pro1570_Ile1571delinsLeu |