Canonical Allele Identifier: CA2662118333

Gene: PJVK

Linked Data

• gnomAD v4: 2-178453571-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453573del , CM000664.2:g.178453573del	GRCh38
NC_000002.11:g.179318300del , CM000664.1:g.179318300del	GRCh37
NC_000002.10:g.179026546del	NCBI36
NG_009053.1:g.2660del
NG_012186.1:g.7138del

Transcript Alleles

HGVS	Amino-acid change
ENST00000642192.1:c.-314del	ENSP00000494225.1:n.-314del
ENST00000642492.1:c.-415del	ENSP00000496267.1:n.-415del
ENST00000643738.1:c.-314del	ENSP00000493684.1:n.-314del
ENST00000644554.1:c.-314del	ENSP00000495037.1:n.-314del
ENST00000644580.2:c.164del MANE Select	ENSP00000495855.2:p.Pro55LeufsTer4
ENST00000645572.1:c.164del	ENSP00000494301.1:p.Pro55LeufsTer4
ENST00000645762.1:n.278del
ENST00000645817.1:c.-314del	ENSP00000495731.1:n.-314del
ENST00000647226.1:c.-314del	ENSP00000496024.1:n.-314del
ENST00000375129.8:c.164del	ENSP00000364271.4:p.Pro55LeufsTer4
ENST00000409117.7:c.164del	ENSP00000386647.3:p.Pro55LeufsTer4
ENST00000437056.5:n.323del
ENST00000442710.5:c.6del
NM_001042702.3:c.164del	NP_001036167.1:p.Pro55LeufsTer4
XM_005246627.1:c.173del	XP_005246684.1:p.Pro58LeufsTer4
XM_005246628.2:c.269del	XP_005246685.1:p.Pro90LeufsTer4
XM_005246629.2:c.155del	XP_005246686.1:p.Pro52LeufsTer4
XM_011511247.1:c.269del	XP_011509549.1:p.Pro90LeufsTer4
XM_011511248.1:c.233del	XP_011509550.1:p.Pro78LeufsTer4
XM_011511249.1:c.-266-759del	XP_011509551.1:n.-266-759del
XM_011511250.1:c.-314del	XP_011509552.1:n.-314del
XM_011511251.1:c.-266-759del	XP_011509553.1:n.-266-759del
XR_922929.1:n.936del
NM_001042702.4:c.164del	NP_001036167.1:p.Pro55LeufsTer4
NM_001353775.1:c.173del	NP_001340704.1:p.Pro58LeufsTer4
NM_001353776.1:c.269del	NP_001340705.1:p.Pro90LeufsTer4
NM_001353777.1:c.-314del	NP_001340706.1:n.-314del
NM_001353778.1:c.-314del	NP_001340707.1:n.-314del
XM_005246629.4:c.155del	XP_005246686.1:p.Pro52LeufsTer4
XM_011511247.3:c.269del	XP_011509549.1:p.Pro90LeufsTer4
XM_011511249.3:c.-266-759del	XP_011509551.1:n.-266-759del
XM_017004221.2:c.269del	XP_016859710.1:p.Pro90LeufsTer4
XM_017004224.2:c.-1025del	XP_016859713.1:n.-1025del
XM_024452927.1:c.-415del	XP_024308695.1:n.-415del
XM_024452928.1:c.-314del	XP_024308696.1:n.-314del
XR_001738753.2:n.1976del
XR_002959300.1:n.1976del
XR_922929.3:n.459del
NM_001042702.5:c.164del MANE Select	NP_001036167.1:p.Pro55LeufsTer4
NM_001369912.1:c.164del	NP_001356841.1:p.Pro55LeufsTer4
NM_001353775.2:c.173del	NP_001340704.1:p.Pro58LeufsTer4
NM_001353776.2:c.269del	NP_001340705.1:p.Pro90LeufsTer4
NM_001353778.2:c.-314del	NP_001340707.1:n.-314del