Canonical Allele Identifier: CA2761112641
Gene: WDR19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39205172_39205173del , CM000666.2:g.39205172_39205173del GRCh38
NC_000004.11:g.39206792_39206793del , CM000666.1:g.39206792_39206793del GRCh37
NC_000004.10:g.38883187_38883188del NCBI36
NG_031813.1:g.27769_27770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000399820.8:c.622_623del MANE Select ENSP00000382717.3:p.Lys208GlufsTer10
ENST00000399820.7:c.622_623del ENSP00000382717.3:p.Lys208GlufsTer10
ENST00000503697.5:c.*90_*91del ENSP00000423706.1:n.*90_*91del
ENST00000505055.5:c.*203_*204del ENSP00000425949.1:n.*203_*204del
ENST00000506503.1:c.622_623del ENSP00000423491.1:p.Lys208GlufsTer10
ENST00000506869.5:c.*203_*204del ENSP00000424319.1:n.*203_*204del
ENST00000511729.5:n.40+22609_40+22610del
ENST00000512448.1:n.216_217del
NM_025132.3:c.622_623del NP_079408.3:p.Lys208GlufsTer10
XM_011513724.1:c.622_623del XP_011512026.1:p.Lys208GlufsTer10
XM_011513725.1:c.556_557del XP_011512027.1:p.Lys186GlufsTer10
XM_011513726.1:c.142_143del XP_011512028.1:p.Lys48GlufsTer10
XM_011513727.1:c.142_143del XP_011512029.1:p.Lys48GlufsTer10
XM_011513728.1:c.142_143del XP_011512030.1:p.Lys48GlufsTer10
XM_011513729.1:c.622_623del XP_011512031.1:p.Lys208GlufsTer10
XR_925155.1:n.686_687del
NM_001317924.1:c.142_143del NP_001304853.1:p.Lys48GlufsTer10
XM_011513725.2:c.556_557del XP_011512027.1:p.Lys186GlufsTer10
XM_011513726.3:c.142_143del XP_011512028.1:p.Lys48GlufsTer10
XM_017008501.1:c.142_143del XP_016863990.1:p.Lys48GlufsTer10
XR_001741306.1:n.686_687del
XR_001741307.1:n.686_687del
XR_001741308.1:n.686_687del
XR_001741309.1:n.686_687del
XR_001741310.1:n.686_687del
XR_001741311.2:n.535_536del
XR_001741312.1:n.686_687del
NM_025132.4:c.622_623del MANE Select NP_079408.3:p.Lys208GlufsTer10
NM_001317924.2:c.142_143del NP_001304853.1:p.Lys48GlufsTer10