Linked Data
ClinVar Variation Id:
224622
dbSNP Id:
rs777630688
ExAC:
13:50126317 GT / G
gnomAD v2:
13-50126317-GT-G
gnomAD v3:
13-49552181-GT-G
gnomAD v4:
13-49552181-GT-G
PubMed:
PMID:26908610
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.49552183del , CM000675.2:g.49552183del | GRCh38 |
| NC_000013.10:g.50126319del , CM000675.1:g.50126319del | GRCh37 |
| NC_000013.9:g.49024320del | NCBI36 |
| NG_046892.1:g.38425del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378302.7:c.707del MANE Select | ENSP00000367552.2:p.Asn236ThrfsTer11 | |
| ENST00000258646.3:c.707del | ENSP00000258646.3:p.Asn236ThrfsTer11 | |
| ENST00000378302.6:c.707del | ENSP00000367552.2:p.Asn236ThrfsTer11 | |
| ENST00000490058.1:n.71del | ||
| NM_018191.3:c.707del | NP_060661.3:p.Asn236ThrfsTer11 | |
| XM_005266441.2:c.707del | XP_005266498.1:p.Asn236ThrfsTer11 | |
| XM_011535133.1:c.707del | XP_011533435.1:p.Asn236ThrfsTer11 | |
| XM_011535134.1:c.707del | XP_011533436.1:p.Asn236ThrfsTer11 | |
| XM_011535135.1:c.320del | XP_011533437.1:p.Asn107ThrfsTer11 | |
| XM_011535136.1:c.707del | XP_011533438.1:p.Asn236ThrfsTer11 | |
| XR_245392.1:n.972del | ||
| XR_941613.1:n.972del | ||
| XR_941614.1:n.972del | ||
| NM_001352500.1:c.707del | NP_001339429.1:p.Asn236ThrfsTer11 | |
| NM_001352501.1:c.707del | NP_001339430.1:p.Asn236ThrfsTer11 | |
| NM_001352502.1:c.707del | NP_001339431.1:p.Asn236ThrfsTer11 | |
| NM_001352503.1:c.707del | NP_001339432.1:p.Asn236ThrfsTer11 | |
| NM_001352504.1:c.707del | NP_001339433.1:p.Asn236ThrfsTer11 | |
| NM_001352505.1:c.707del | NP_001339434.1:p.Asn236ThrfsTer11 | |
| NM_001352506.1:c.128del | NP_001339435.1:p.Asn43ThrfsTer11 | |
| NR_148015.1:n.968del | ||
| NR_148016.1:n.968del | ||
| XM_011535135.2:c.320del | XP_011533437.1:p.Asn107ThrfsTer11 | |
| XM_011535136.2:c.707del | XP_011533438.1:p.Asn236ThrfsTer11 | |
| XR_001749596.1:n.972del | ||
| NM_018191.4:c.707del MANE Select | NP_060661.3:p.Asn236ThrfsTer11 | |
| NM_001352500.2:c.707del | NP_001339429.1:p.Asn236ThrfsTer11 | |
| NM_001352501.2:c.707del | NP_001339430.1:p.Asn236ThrfsTer11 | |
| NM_001352502.2:c.707del | NP_001339431.1:p.Asn236ThrfsTer11 | |
| NM_001352503.2:c.707del | NP_001339432.1:p.Asn236ThrfsTer11 | |
| NM_001352505.2:c.707del | NP_001339434.1:p.Asn236ThrfsTer11 | |
| NM_001352506.2:c.128del | NP_001339435.1:p.Asn43ThrfsTer11 | |
| NR_148015.2:n.943del | ||
| NR_148016.2:n.943del | ||
| NM_001352504.2:c.707del | NP_001339433.1:p.Asn236ThrfsTer11 |