ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21743753del , CM000685.2:g.21743753del | GRCh38 |
| NC_000023.10:g.21761871del , CM000685.1:g.21761871del | GRCh37 |
| NC_000023.9:g.21671792del | NCBI36 |
| NG_031916.1:g.19409del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379494.4:c.130del MANE Select | ENSP00000368808.3:p.Glu44ArgfsTer? | |
| ENST00000646008.1:c.130del | ENSP00000493671.1:p.Glu44ArgfsTer? | |
| ENST00000379494.3:c.130del | ENSP00000368808.3:p.Glu44ArgfsTer? | |
| ENST00000494525.1:n.223del | ||
| NM_014332.2:c.130del | NP_055147.1:p.Glu44ArgfsTer? | |
| NR_045617.1:n.361del | ||
| NM_014332.3:c.130del MANE Select | NP_055147.1:p.Glu44ArgfsTer? | |
| NR_045617.2:n.317del |