Canonical Allele Identifier: CA1039708636

Gene: PJVK

Linked Data

• dbSNP Id: rs1697850161
• gnomAD v3: 2-178453590-AT-A
• gnomAD v4: 2-178453590-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453592del , CM000664.2:g.178453592del	GRCh38
NC_000002.11:g.179318319del , CM000664.1:g.179318319del	GRCh37
NC_000002.10:g.179026565del	NCBI36
NG_009053.1:g.2641del
NG_012186.1:g.7157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-295del	ENSP00000494225.1:n.-295del
ENST00000642492.1:c.-396del	ENSP00000496267.1:n.-396del
ENST00000643738.1:c.-295del	ENSP00000493684.1:n.-295del
ENST00000644554.1:c.-295del	ENSP00000495037.1:n.-295del
ENST00000644580.2:c.183del MANE Select	ENSP00000495855.2:p.Leu62SerfsTer2
ENST00000645572.1:c.183del	ENSP00000494301.1:p.Leu62SerfsTer2
ENST00000645762.1:n.297del
ENST00000645817.1:c.-295del	ENSP00000495731.1:n.-295del
ENST00000647226.1:c.-295del	ENSP00000496024.1:n.-295del
ENST00000375129.8:c.183del	ENSP00000364271.4:p.Leu62SerfsTer2
ENST00000409117.7:c.183del	ENSP00000386647.3:p.Leu62SerfsTer2
ENST00000437056.5:n.342del
ENST00000442710.5:c.25del
NM_001042702.3:c.183del	NP_001036167.1:p.Leu62SerfsTer2
XM_005246627.1:c.192del	XP_005246684.1:p.Leu65SerfsTer2
XM_005246628.2:c.288del	XP_005246685.1:p.Leu97SerfsTer2
XM_005246629.2:c.174del	XP_005246686.1:p.Leu59SerfsTer2
XM_011511247.1:c.288del	XP_011509549.1:p.Leu97SerfsTer2
XM_011511248.1:c.252del	XP_011509550.1:p.Leu85SerfsTer2
XM_011511249.1:c.-266-740del	XP_011509551.1:n.-266-740del
XM_011511250.1:c.-295del	XP_011509552.1:n.-295del
XM_011511251.1:c.-266-740del	XP_011509553.1:n.-266-740del
XR_922929.1:n.955del
NM_001042702.4:c.183del	NP_001036167.1:p.Leu62SerfsTer2
NM_001353775.1:c.192del	NP_001340704.1:p.Leu65SerfsTer2
NM_001353776.1:c.288del	NP_001340705.1:p.Leu97SerfsTer2
NM_001353777.1:c.-295del	NP_001340706.1:n.-295del
NM_001353778.1:c.-295del	NP_001340707.1:n.-295del
XM_005246629.4:c.174del	XP_005246686.1:p.Leu59SerfsTer2
XM_011511247.3:c.288del	XP_011509549.1:p.Leu97SerfsTer2
XM_011511249.3:c.-266-740del	XP_011509551.1:n.-266-740del
XM_017004221.2:c.288del	XP_016859710.1:p.Leu97SerfsTer2
XM_017004224.2:c.-1006del	XP_016859713.1:n.-1006del
XM_024452927.1:c.-396del	XP_024308695.1:n.-396del
XM_024452928.1:c.-295del	XP_024308696.1:n.-295del
XR_001738753.2:n.1995del
XR_002959300.1:n.1995del
XR_922929.3:n.478del
NM_001042702.5:c.183del MANE Select	NP_001036167.1:p.Leu62SerfsTer2
NM_001369912.1:c.183del	NP_001356841.1:p.Leu62SerfsTer2
NM_001353775.2:c.192del	NP_001340704.1:p.Leu65SerfsTer2
NM_001353776.2:c.288del	NP_001340705.1:p.Leu97SerfsTer2
NM_001353778.2:c.-295del	NP_001340707.1:n.-295del