ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67170599del , CM000677.2:g.67170599del | GRCh38 |
| NC_000015.9:g.67462937del , CM000677.1:g.67462937del | GRCh37 |
| NC_000015.8:g.65249991del | NCBI36 |
| NG_011990.1:g.109743del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558428.6:c.68del | ENSP00000454165.2:p.Asn23ThrfsTer23 | |
| ENST00000558739.2:c.338del | ENSP00000453684.2:p.Asn113ThrfsTer23 | |
| ENST00000558827.2:c.68del | ENSP00000452767.2:p.Asn23ThrfsTer23 | |
| ENST00000559460.6:c.338del | ENSP00000453082.2:p.Asn113ThrfsTer23 | |
| ENST00000560424.2:c.653del | ENSP00000455540.2:p.Asn218ThrfsTer23 | |
| ENST00000327367.9:c.653del MANE Select | ENSP00000332973.4:p.Asn218ThrfsTer23 | |
| ENST00000679624.1:c.338del | ENSP00000505445.1:p.Asn113ThrfsTer23 | |
| ENST00000681239.1:c.338del | ENSP00000505641.1:p.Asn113ThrfsTer23 | |
| ENST00000327367.8:c.653del | ENSP00000332973.4:p.Asn218ThrfsTer23 | |
| ENST00000439724.7:c.521del | ENSP00000401133.3:p.Asn174ThrfsTer23 | |
| ENST00000537194.6:c.68del | ENSP00000445348.2:p.Asn23ThrfsTer23 | |
| ENST00000540846.6:c.338del | ENSP00000437757.2:p.Asn113ThrfsTer23 | |
| ENST00000558428.5:c.68del | ENSP00000454165.1:p.Asn23ThrfsTer23 | |
| ENST00000558827.1:c.68del | ENSP00000452767.1:p.Asn23ThrfsTer23 | |
| ENST00000558894.5:c.338del | ENSP00000458060.1:p.Asn113ThrfsTer23 | |
| ENST00000559937.1:n.503del | ||
| ENST00000560175.5:c.338del | ENSP00000455095.1:p.Asn113ThrfsTer? | |
| NM_001145102.1:c.338del | NP_001138574.1:p.Asn113ThrfsTer23 | |
| NM_001145103.1:c.521del | NP_001138575.1:p.Asn174ThrfsTer23 | |
| NM_001145104.1:c.68del | NP_001138576.1:p.Asn23ThrfsTer23 | |
| NM_005902.3:c.653del | NP_005893.1:p.Asn218ThrfsTer23 | |
| XM_011521559.1:c.521del | XP_011519861.1:p.Asn174ThrfsTer23 | |
| XM_011521560.1:c.506del | XP_011519862.1:p.Asn169ThrfsTer23 | |
| XM_011521559.3:c.521del | XP_011519861.1:p.Asn174ThrfsTer23 | |
| NM_005902.4:c.653del MANE Select | NP_005893.1:p.Asn218ThrfsTer23 | |
| NM_001145102.2:c.338del | NP_001138574.1:p.Asn113ThrfsTer23 | |
| NM_001145103.2:c.521del | NP_001138575.1:p.Asn174ThrfsTer23 | |
| NM_001145104.2:c.68del | NP_001138576.1:p.Asn23ThrfsTer23 |