Canonical Allele Identifier: CA2691373322

Gene: WHRN

Linked Data

• gnomAD v4: 9-114424363-G-GGGCCATGACGAGGGCCTCCACAGAGACGCTGCCGCCACGGTACTCATCCAGGTAGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114424396_114424397insGCCACGGTACTCATCCAGGTAGTAGGCCATGACGAGGGCCTCCACAGAGACGCTGCC , CM000671.2:g.114424396_114424397insGCCACGGTACTCATCCAGGTAGTAGGCCATGACGAGGGCCTCCACAGAGACGCTGCC	GRCh38
NC_000009.11:g.117186676_117186677insGCCACGGTACTCATCCAGGTAGTAGGCCATGACGAGGGCCTCCACAGAGACGCTGCC , CM000671.1:g.117186676_117186677insGCCACGGTACTCATCCAGGTAGTAGGCCATGACGAGGGCCTCCACAGAGACGCTGCC	GRCh37
NC_000009.10:g.116226497_116226498insGCCACGGTACTCATCCAGGTAGTAGGCCATGACGAGGGCCTCCACAGAGACGCTGCC	NCBI36
NG_016700.1:g.86093_86094insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000699486.1:c.1110_1111insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	ENSP00000514397.1:p.Ala370_Leu371insTyrTyrLeuAspGluTyrArgGlyG...
ENST00000362057.4:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC MANE Select	ENSP00000354623.3:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyG...
ENST00000673811.1:n.2320_2321insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
ENST00000674036.8:c.569_570insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
ENST00000674048.1:n.1267_1268insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
ENST00000265134.10:c.237_238insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	ENSP00000265134.6:p.Ala79_Leu80insTyrTyrLeuAspGluTyrArgGlyGly...
ENST00000362057.3:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	ENSP00000354623.3:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyG...
ENST00000374059.7:c.333_334insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	ENSP00000363172.3:p.Ala111_Leu112insTyrTyrLeuAspGluTyrArgGlyG...
NM_001083885.2:c.237_238insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	NP_001077354.2:p.Ala79_Leu80insTyrTyrLeuAspGluTyrArgGlyGlySer...
NM_001173425.1:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	NP_001166896.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
NM_015404.3:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	NP_056219.3:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlySerV...
XM_005251897.3:c.964-16346_964-16345insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_005251954.2:n.964-16346_964-16345insTACTACCTGGATGAGTACCGTG...
XM_011518484.1:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516786.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518485.1:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516787.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518486.1:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516788.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518487.1:c.1260_1261insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516789.1:p.Ala420_Leu421insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518488.1:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516790.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518489.1:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516791.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518490.1:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516792.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518491.1:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516793.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518492.1:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516794.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518493.1:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516795.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518494.1:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516796.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518495.1:c.63_64insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516797.1:p.Ala21_Leu22insTyrTyrLeuAspGluTyrArgGlyGlySer...
XR_929747.1:n.2094_2095insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929748.1:n.2094_2095insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929749.1:n.2094_2095insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929750.1:n.2094_2095insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929751.1:n.2094_2095insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929752.1:n.2094_2095insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929753.1:n.2094_2095insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929754.1:n.2094_2095insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929755.1:n.2094_2095insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929756.1:n.2094_2095insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929757.1:n.2094_2095insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
NM_001346890.1:c.333_334insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	NP_001333819.1:p.Ala111_Leu112insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518486.2:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516788.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518487.2:c.1260_1261insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516789.1:p.Ala420_Leu421insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518488.2:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516790.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518489.3:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516791.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518491.3:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516793.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518492.2:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516794.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XM_011518494.3:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	XP_011516796.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
XR_929747.2:n.1405_1406insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929748.2:n.1405_1406insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929749.2:n.1405_1406insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929750.3:n.1405_1406insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929752.2:n.1405_1406insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929753.3:n.1405_1406insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929754.2:n.1405_1406insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929755.3:n.1405_1406insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929756.2:n.1405_1406insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
XR_929757.2:n.1405_1406insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC
NM_015404.4:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC MANE Select	NP_056219.3:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlySerV...
NM_001173425.2:c.1386_1387insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	NP_001166896.1:p.Ala462_Leu463insTyrTyrLeuAspGluTyrArgGlyGlyS...
NM_001083885.3:c.237_238insTACTACCTGGATGAGTACCGTGGCGGCAGCGTCTCTGTGGAGGCCCTCGTCATGGCC	NP_001077354.2:p.Ala79_Leu80insTyrTyrLeuAspGluTyrArgGlyGlySer...