ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42537494del , CM000679.2:g.42537494del | GRCh38 |
| NC_000017.10:g.40689512del , CM000679.1:g.40689512del | GRCh37 |
| NC_000017.9:g.37943038del | NCBI36 |
| NG_011552.1:g.6562del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.480del MANE Select | ENSP00000225927.1:p.Asn160LysfsTer25 | |
| ENST00000225927.6:c.480del | ENSP00000225927.1:p.Asn160LysfsTer25 | |
| ENST00000586516.5:c.133+839del | ||
| ENST00000590358.1:c.168del | ENSP00000466892.1:p.Asn56LysfsTer25 | |
| ENST00000591587.1:c.126+839del | ENSP00000467836.1:n.126+839del | |
| NM_000263.3:c.480del | NP_000254.2:p.Asn160LysfsTer25 | |
| XM_006721920.2:c.-263del | XP_006721983.1:n.-263del | |
| XM_011524840.1:c.-263del | XP_011523142.1:n.-263del | |
| XM_017024687.1:c.-263del | XP_016880176.1:n.-263del | |
| XM_024450771.1:c.537del | XP_024306539.1:p.Asn179LysfsTer25 | |
| XM_024450772.1:c.-263del | XP_024306540.1:n.-263del | |
| NM_000263.4:c.480del MANE Select | NP_000254.2:p.Asn160LysfsTer25 |