Canonical Allele Identifier: CA2739271679

Gene: PJVK

Linked Data

• ClinVar Variation Id: 2831368
• ClinVar RCV Id: RCV003686569

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453599_178453603del , CM000664.2:g.178453599_178453603del	GRCh38
NC_000002.11:g.179318326_179318330del , CM000664.1:g.179318326_179318330del	GRCh37
NC_000002.10:g.179026572_179026576del	NCBI36
NG_009053.1:g.2630_2634del
NG_012186.1:g.7164_7168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-288_-284del	ENSP00000494225.1:n.-288_-284del
ENST00000642492.1:c.-389_-385del	ENSP00000496267.1:n.-389_-385del
ENST00000643738.1:c.-288_-284del	ENSP00000493684.1:n.-288_-284del
ENST00000644554.1:c.-288_-284del	ENSP00000495037.1:n.-288_-284del
ENST00000644580.2:c.190_194del MANE Select	ENSP00000495855.2:p.Gly64GlnfsTer16
ENST00000645572.1:c.190_194del	ENSP00000494301.1:p.Gly64GlnfsTer16
ENST00000645762.1:n.304_308del
ENST00000645817.1:c.-288_-284del	ENSP00000495731.1:n.-288_-284del
ENST00000647226.1:c.-288_-284del	ENSP00000496024.1:n.-288_-284del
ENST00000375129.8:c.190_194del	ENSP00000364271.4:p.Gly64GlnfsTer16
ENST00000409117.7:c.190_194del	ENSP00000386647.3:p.Gly64GlnfsTer16
ENST00000437056.5:n.349_353del
ENST00000442710.5:c.32_36del
NM_001042702.3:c.190_194del	NP_001036167.1:p.Gly64GlnfsTer16
XM_005246627.1:c.199_203del	XP_005246684.1:p.Gly67GlnfsTer16
XM_005246628.2:c.295_299del	XP_005246685.1:p.Gly99GlnfsTer16
XM_005246629.2:c.181_185del	XP_005246686.1:p.Gly61GlnfsTer16
XM_011511247.1:c.295_299del	XP_011509549.1:p.Gly99GlnfsTer16
XM_011511248.1:c.259_263del	XP_011509550.1:p.Gly87GlnfsTer16
XM_011511249.1:c.-266-733_-266-729del	XP_011509551.1:n.-266-733_-266-729del
XM_011511250.1:c.-288_-284del	XP_011509552.1:n.-288_-284del
XM_011511251.1:c.-266-733_-266-729del	XP_011509553.1:n.-266-733_-266-729del
XR_922929.1:n.962_966del
NM_001042702.4:c.190_194del	NP_001036167.1:p.Gly64GlnfsTer16
NM_001353775.1:c.199_203del	NP_001340704.1:p.Gly67GlnfsTer16
NM_001353776.1:c.295_299del	NP_001340705.1:p.Gly99GlnfsTer16
NM_001353777.1:c.-288_-284del	NP_001340706.1:n.-288_-284del
NM_001353778.1:c.-288_-284del	NP_001340707.1:n.-288_-284del
XM_005246629.4:c.181_185del	XP_005246686.1:p.Gly61GlnfsTer16
XM_011511247.3:c.295_299del	XP_011509549.1:p.Gly99GlnfsTer16
XM_011511249.3:c.-266-733_-266-729del	XP_011509551.1:n.-266-733_-266-729del
XM_017004221.2:c.295_299del	XP_016859710.1:p.Gly99GlnfsTer16
XM_017004224.2:c.-999_-995del	XP_016859713.1:n.-999_-995del
XM_024452927.1:c.-389_-385del	XP_024308695.1:n.-389_-385del
XM_024452928.1:c.-288_-284del	XP_024308696.1:n.-288_-284del
XR_001738753.2:n.2002_2006del
XR_002959300.1:n.2002_2006del
XR_922929.3:n.485_489del
NM_001042702.5:c.190_194del MANE Select	NP_001036167.1:p.Gly64GlnfsTer16
NM_001369912.1:c.190_194del	NP_001356841.1:p.Gly64GlnfsTer16
NM_001353775.2:c.199_203del	NP_001340704.1:p.Gly67GlnfsTer16
NM_001353776.2:c.295_299del	NP_001340705.1:p.Gly99GlnfsTer16
NM_001353778.2:c.-288_-284del	NP_001340707.1:n.-288_-284del