Linked Data
ClinVar Variation Id:
426076
ClinVar RCV Id:
RCV000488879
dbSNP Id:
rs1085307449
PubMed:
PMID:28318500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.56633145_56633148del , CM000676.2:g.56633145_56633148del | GRCh38 |
| NC_000014.8:g.57099863_57099866del , CM000676.1:g.57099863_57099866del | GRCh37 |
| NC_000014.7:g.56169616_56169619del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261556.11:c.1698_1701del MANE Select | ENSP00000261556.6:p.Tyr567ThrfsTer27 | |
| ENST00000261556.10:c.1698_1701del | ENSP00000261556.6:p.Tyr567ThrfsTer27 | |
| ENST00000538838.5:c.*296_*299del | ENSP00000441934.1:n.*296_*299del | |
| ENST00000539559.6:c.*608_*611del | ENSP00000442602.2:n.*608_*611del | |
| ENST00000555497.5:c.*1000_*1003del | ENSP00000452065.1:n.*1000_*1003del | |
| ENST00000555905.5:c.740_743del | ||
| ENST00000556422.5:c.*296_*299del | ENSP00000450988.1:n.*296_*299del | |
| ENST00000556648.1:n.1162_1165del | ||
| NM_017799.3:c.1698_1701del | NP_060269.3:p.Tyr567ThrfsTer27 | |
| XM_005267771.1:c.657_660del | XP_005267828.1:p.Tyr220ThrfsTer27 | |
| XM_006720176.1:c.858_861del | XP_006720239.1:p.Tyr287ThrfsTer27 | |
| XM_006720178.1:c.657_660del | XP_006720241.1:p.Tyr220ThrfsTer27 | |
| XM_011536850.1:c.1563_1566del | XP_011535152.1:p.Tyr522ThrfsTer27 | |
| XM_011536851.1:c.1698_1701del | XP_011535153.1:p.Tyr567ThrfsTer27 | |
| XM_011536852.1:c.1347_1350del | XP_011535154.1:p.Tyr450ThrfsTer27 | |
| XM_011536853.1:c.1230_1233del | XP_011535155.1:p.Tyr411ThrfsTer27 | |
| XM_011536855.1:c.825_828del | XP_011535157.1:p.Tyr276ThrfsTer27 | |
| XM_011536856.1:c.657_660del | XP_011535158.1:p.Tyr220ThrfsTer27 | |
| XR_245695.1:n.1650_1653del | ||
| XR_943481.1:n.1822_1825del | ||
| XM_011536851.2:c.1698_1701del | XP_011535153.1:p.Tyr567ThrfsTer27 | |
| XM_017021379.2:c.1698_1701del | XP_016876868.1:p.Tyr567ThrfsTer27 | |
| XM_017021380.1:c.858_861del | XP_016876869.1:p.Tyr287ThrfsTer27 | |
| XM_024449636.1:c.657_660del | XP_024305404.1:p.Tyr220ThrfsTer27 | |
| XR_001750382.2:n.1821_1824del | ||
| XR_001750385.2:n.1915_1918del | ||
| XR_001750386.2:n.1986_1989del | ||
| XR_001750387.2:n.1649_1652del | ||
| XR_245695.2:n.1649_1652del | ||
| NM_017799.4:c.1698_1701del MANE Select | NP_060269.3:p.Tyr567ThrfsTer27 |