ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561654_139561660del , CM000685.2:g.139561654_139561660del | GRCh38 |
| NC_000023.10:g.138643813_138643819del , CM000685.1:g.138643813_138643819del | GRCh37 |
| NC_000023.9:g.138471479_138471485del | NCBI36 |
| NG_007994.1:g.35919_35925del , LRG_556:g.35919_35925del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.969_975del MANE Select | ENSP00000218099.2:p.Pro324CysfsTer2 | |
| ENST00000643157.1:n.1636_1642del | ||
| ENST00000218099.6:c.969_975del | ENSP00000218099.2:p.Pro324CysfsTer2 | |
| ENST00000394090.2:c.855_861del | ENSP00000377650.2:p.Pro286CysfsTer2 | |
| NM_000133.3:c.969_975del , LRG_556t1:c.969_975del | NP_000124.1:p.Pro324CysfsTer2 | |
| NM_001313913.1:c.855_861del | NP_001300842.1:p.Pro286CysfsTer2 | |
| XM_005262397.3:c.840_846del | XP_005262454.1:p.Pro281CysfsTer2 | |
| XM_005262397.4:c.840_846del | XP_005262454.1:p.Pro281CysfsTer2 | |
| NM_000133.4:c.969_975del MANE Select | NP_000124.1:p.Pro324CysfsTer2 | |
| NM_001313913.2:c.855_861del | NP_001300842.1:p.Pro286CysfsTer2 |