Linked Data
ClinVar Variation Id:
198809
dbSNP Id:
rs794727916
gnomAD v2:
16-55525818-AG-A
gnomAD v4:
16-55491906-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55491907del , CM000678.2:g.55491907del | GRCh38 |
| NC_000016.9:g.55525819del , CM000678.1:g.55525819del | GRCh37 |
| NC_000016.8:g.54083320del | NCBI36 |
| NG_008989.1:g.17739del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219070.9:c.1287del MANE Select | ENSP00000219070.4:p.Asn430ThrfsTer? | |
| ENST00000219070.8:c.1287del | ENSP00000219070.4:p.Asn430ThrfsTer? | |
| ENST00000437642.6:c.1137del | ENSP00000394237.2:p.Asn380ThrfsTer? | |
| ENST00000543485.5:c.1059del | ENSP00000444143.1:p.Asn354ThrfsTer? | |
| ENST00000570283.1:c.162del | ENSP00000456518.1:p.Asn55ThrfsTer? | |
| ENST00000570308.5:c.1059del | ENSP00000461421.1:p.Asn354ThrfsTer? | |
| NM_001127891.2:c.1137del | NP_001121363.1:p.Asn380ThrfsTer? | |
| NM_001302508.1:c.1059del | NP_001289437.1:p.Asn354ThrfsTer? | |
| NM_001302509.1:c.1059del | NP_001289438.1:p.Asn354ThrfsTer? | |
| NM_001302510.1:c.1059del | NP_001289439.1:p.Asn354ThrfsTer? | |
| NM_004530.5:c.1287del | NP_004521.1:p.Asn430ThrfsTer? | |
| NM_004530.6:c.1287del MANE Select | NP_004521.1:p.Asn430ThrfsTer? | |
| NM_001127891.3:c.1137del | NP_001121363.1:p.Asn380ThrfsTer? | |
| NM_001302509.2:c.1059del | NP_001289438.1:p.Asn354ThrfsTer? | |
| NM_001302510.2:c.1059del | NP_001289439.1:p.Asn354ThrfsTer? |