Canonical Allele Identifier: CA2662119995

Gene: PJVK

Linked Data

• gnomAD v4: 2-178456150-G-GGTTTCACTTTATGGATGAACAGAATCCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178456151_178456152insTTTCACTTTATGGATGAACAGAATCCCAAG , CM000664.2:g.178456151_178456152insTTTCACTTTATGGATGAACAGAATCCCAAG	GRCh38
NC_000002.11:g.179320878_179320879insTTTCACTTTATGGATGAACAGAATCCCAAG , CM000664.1:g.179320878_179320879insTTTCACTTTATGGATGAACAGAATCCCAAG	GRCh37
NC_000002.10:g.179029124_179029125insTTTCACTTTATGGATGAACAGAATCCCAAG	NCBI36
NG_009053.1:g.81_82insTTGGGATTCTGTTCATCCATAAAGTGAAAC
NG_012186.1:g.9716_9717insTTTCACTTTATGGATGAACAGAATCCCAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000642192.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	ENSP00000494225.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnPro...
ENST00000642492.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	ENSP00000496267.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnPro...
ENST00000643738.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	ENSP00000493684.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnPro...
ENST00000643768.1:n.206_206+1insTTTCACTTTATGGATGAACAGAATCCCAAG
ENST00000644580.2:c.549_549+1insTTTCACTTTATGGATGAACAGAATCCCAAG MANE Select	ENSP00000495855.2:p.Arg183_Phe184insPheHisPheMetAspGluGlnAsnP...
ENST00000645572.1:c.549_549+1insTTTCACTTTATGGATGAACAGAATCCCAAG	ENSP00000494301.1:p.Arg183_Phe184insPheHisPheMetAspGluGlnAsnP...
ENST00000645762.1:n.663_664insTTTCACTTTATGGATGAACAGAATCCCAAG
ENST00000645817.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	ENSP00000495731.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnPro...
ENST00000647226.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	ENSP00000496024.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnPro...
ENST00000375129.8:c.549_549+1insTTTCACTTTATGGATGAACAGAATCCCAAG	ENSP00000364271.4:p.Arg183_Phe184insPheHisPheMetAspGluGlnAsnP...
ENST00000409117.7:c.549_549+1insTTTCACTTTATGGATGAACAGAATCCCAAG	ENSP00000386647.3:p.Arg183_Phe184insPheHisPheMetAspGluGlnAsnP...
ENST00000437056.5:n.1419_1419+1insTTTCACTTTATGGATGAACAGAATCCCAAG
ENST00000442710.5:c.391_391+1insTTTCACTTTATGGATGAACAGAATCCCAAG
ENST00000444615.1:c.191_191+1insTTTCACTTTATGGATGAACAGAATCCCAAG
NM_001042702.3:c.549_549+1insTTTCACTTTATGGATGAACAGAATCCCAAG	NP_001036167.1:p.Arg183_Phe184insPheHisPheMetAspGluGlnAsnProL...
XM_005246627.1:c.558_558+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_005246684.1:p.Arg186_Phe187insPheHisPheMetAspGluGlnAsnProL...
XM_005246628.2:c.654_654+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_005246685.1:p.Arg218_Phe219insPheHisPheMetAspGluGlnAsnProL...
XM_005246629.2:c.540_540+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_005246686.1:p.Arg180_Phe181insPheHisPheMetAspGluGlnAsnProL...
XM_011511247.1:c.654_654+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_011509549.1:p.Arg218_Phe219insPheHisPheMetAspGluGlnAsnProL...
XM_011511248.1:c.618_618+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_011509550.1:p.Arg206_Phe207insPheHisPheMetAspGluGlnAsnProL...
XM_011511249.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_011509551.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnProLys...
XM_011511250.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_011509552.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnProLys...
XM_011511251.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_011509553.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnProLys...
XR_922929.1:n.1321_1321+1insTTTCACTTTATGGATGAACAGAATCCCAAG
NM_001042702.4:c.549_549+1insTTTCACTTTATGGATGAACAGAATCCCAAG	NP_001036167.1:p.Arg183_Phe184insPheHisPheMetAspGluGlnAsnProL...
NM_001353775.1:c.558_558+1insTTTCACTTTATGGATGAACAGAATCCCAAG	NP_001340704.1:p.Arg186_Phe187insPheHisPheMetAspGluGlnAsnProL...
NM_001353776.1:c.654_654+1insTTTCACTTTATGGATGAACAGAATCCCAAG	NP_001340705.1:p.Arg218_Phe219insPheHisPheMetAspGluGlnAsnProL...
NM_001353777.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	NP_001340706.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnProLys...
NM_001353778.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	NP_001340707.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnProLys...
XM_005246629.4:c.540_540+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_005246686.1:p.Arg180_Phe181insPheHisPheMetAspGluGlnAsnProL...
XM_011511247.3:c.654_654+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_011509549.1:p.Arg218_Phe219insPheHisPheMetAspGluGlnAsnProL...
XM_011511249.3:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_011509551.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnProLys...
XM_017004221.2:c.654_654+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_016859710.1:p.Arg218_Phe219insPheHisPheMetAspGluGlnAsnProL...
XM_017004224.2:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_016859713.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnProLys...
XM_024452927.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_024308695.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnProLys...
XM_024452928.1:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	XP_024308696.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnProLys...
XR_001738753.2:n.2361_2361+1insTTTCACTTTATGGATGAACAGAATCCCAAG
XR_002959300.1:n.2361_2361+1insTTTCACTTTATGGATGAACAGAATCCCAAG
XR_922929.3:n.844_844+1insTTTCACTTTATGGATGAACAGAATCCCAAG
NM_001042702.5:c.549_549+1insTTTCACTTTATGGATGAACAGAATCCCAAG MANE Select	NP_001036167.1:p.Arg183_Phe184insPheHisPheMetAspGluGlnAsnProL...
NM_001369912.1:c.549_549+1insTTTCACTTTATGGATGAACAGAATCCCAAG	NP_001356841.1:p.Arg183_Phe184insPheHisPheMetAspGluGlnAsnProL...
NM_001353775.2:c.558_558+1insTTTCACTTTATGGATGAACAGAATCCCAAG	NP_001340704.1:p.Arg186_Phe187insPheHisPheMetAspGluGlnAsnProL...
NM_001353776.2:c.654_654+1insTTTCACTTTATGGATGAACAGAATCCCAAG	NP_001340705.1:p.Arg218_Phe219insPheHisPheMetAspGluGlnAsnProL...
NM_001353778.2:c.72_72+1insTTTCACTTTATGGATGAACAGAATCCCAAG	NP_001340707.1:p.Arg24_Phe25insPheHisPheMetAspGluGlnAsnProLys...