Canonical Allele Identifier: CA277980
Gene: WHRN HGNC NCBI

Linked Data

ClinVar Variation Id: 45679
ClinVar RCV Id: RCV000038897
dbSNP Id: rs397517258

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114478748del , CM000671.2:g.114478748del GRCh38
NC_000009.11:g.117241028del , CM000671.1:g.117241028del GRCh37
NC_000009.10:g.116280849del NCBI36
NG_016700.1:g.31710del

Transcript Alleles

HGVS Amino-acid change
ENST00000699486.1:c.367del ENSP00000514397.1:p.Val123CysfsTer?
ENST00000362057.4:c.643del MANE Select ENSP00000354623.3:p.Val215CysfsTer?
ENST00000673811.1:n.391del
ENST00000265134.10:c.-507del ENSP00000265134.6:n.-507del
ENST00000362057.3:c.643del ENSP00000354623.3:p.Val215CysfsTer?
ENST00000374057.3:c.643del ENSP00000363170.3:p.Val215CysfsTer?
NM_001083885.2:c.-507del NP_001077354.2:n.-507del
NM_001173425.1:c.643del NP_001166896.1:p.Val215CysfsTer?
NM_015404.3:c.643del NP_056219.3:p.Val215CysfsTer?
XM_005251897.3:c.643del XP_005251954.2:p.Val215CysfsTer?
XM_011518484.1:c.643del XP_011516786.1:p.Val215CysfsTer?
XM_011518485.1:c.643del XP_011516787.1:p.Val215CysfsTer?
XM_011518486.1:c.643del XP_011516788.1:p.Val215CysfsTer?
XM_011518487.1:c.643del XP_011516789.1:p.Val215CysfsTer?
XM_011518488.1:c.643del XP_011516790.1:p.Val215CysfsTer?
XM_011518489.1:c.643del XP_011516791.1:p.Val215CysfsTer?
XM_011518490.1:c.643del XP_011516792.1:p.Val215CysfsTer?
XM_011518491.1:c.643del XP_011516793.1:p.Val215CysfsTer?
XM_011518492.1:c.643del XP_011516794.1:p.Val215CysfsTer?
XM_011518493.1:c.643del XP_011516795.1:p.Val215CysfsTer?
XM_011518494.1:c.643del XP_011516796.1:p.Val215CysfsTer?
XR_929747.1:n.1351del
XR_929748.1:n.1351del
XR_929749.1:n.1351del
XR_929750.1:n.1351del
XR_929751.1:n.1351del
XR_929752.1:n.1351del
XR_929753.1:n.1351del
XR_929754.1:n.1351del
XR_929755.1:n.1351del
XR_929756.1:n.1351del
XR_929757.1:n.1351del
XM_011518486.2:c.643del XP_011516788.1:p.Val215CysfsTer?
XM_011518487.2:c.643del XP_011516789.1:p.Val215CysfsTer?
XM_011518488.2:c.643del XP_011516790.1:p.Val215CysfsTer?
XM_011518489.3:c.643del XP_011516791.1:p.Val215CysfsTer?
XM_011518491.3:c.643del XP_011516793.1:p.Val215CysfsTer?
XM_011518492.2:c.643del XP_011516794.1:p.Val215CysfsTer?
XM_011518494.3:c.643del XP_011516796.1:p.Val215CysfsTer?
XR_929747.2:n.662del
XR_929748.2:n.662del
XR_929749.2:n.662del
XR_929750.3:n.662del
XR_929752.2:n.662del
XR_929753.3:n.662del
XR_929754.2:n.662del
XR_929755.3:n.662del
XR_929756.2:n.662del
XR_929757.2:n.662del
NM_015404.4:c.643del MANE Select NP_056219.3:p.Val215CysfsTer?
NM_001173425.2:c.643del NP_001166896.1:p.Val215CysfsTer?
NM_001083885.3:c.-507del NP_001077354.2:n.-507del