ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115740797_115740812del , CM000663.2:g.115740797_115740812del | GRCh38 |
| NC_000001.10:g.116283418_116283433del , CM000663.1:g.116283418_116283433del | GRCh37 |
| NC_000001.9:g.116084941_116084956del | NCBI36 |
| NG_008802.1:g.32997_33012del , LRG_404:g.32997_33012del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.63_78del | ENSP00000518226.1:p.Ser21ArgfsTer6 | |
| ENST00000261448.6:c.339_354del MANE Select | ENSP00000261448.5:p.Ser113ArgfsTer6 | |
| ENST00000261448.5:c.339_354del | ENSP00000261448.5:p.Ser113ArgfsTer6 | |
| NM_001232.3:c.339_354del , LRG_404t1:c.339_354del | NP_001223.2:p.Ser113ArgfsTer6 | |
| NM_001232.4:c.339_354del MANE Select | NP_001223.2:p.Ser113ArgfsTer6 |