Canonical Allele Identifier: CA2662118365

Gene: PJVK

Linked Data

• gnomAD v4: 2-178453622-T-TATTTCATCTTATCAATTACTGAATTATG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453623_178453624insTTTCATCTTATCAATTACTGAATTATGA , CM000664.2:g.178453623_178453624insTTTCATCTTATCAATTACTGAATTATGA	GRCh38
NC_000002.11:g.179318350_179318351insTTTCATCTTATCAATTACTGAATTATGA , CM000664.1:g.179318350_179318351insTTTCATCTTATCAATTACTGAATTATGA	GRCh37
NC_000002.10:g.179026596_179026597insTTTCATCTTATCAATTACTGAATTATGA	NCBI36
NG_009053.1:g.2609_2610insCATAATTCAGTAATTGATAAGATGAAAT
NG_012186.1:g.7188_7189insTTTCATCTTATCAATTACTGAATTATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA	ENSP00000494225.1:n.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTA...
ENST00000642492.1:c.-368+3_-368+4insTTTCATCTTATCAATTACTGAATTATGA	ENSP00000496267.1:n.-368+3_-368+4insTTTCATCTTATCAATTACTGAATTA...
ENST00000643738.1:c.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA	ENSP00000493684.1:n.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTA...
ENST00000644554.1:c.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA	ENSP00000495037.1:n.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTA...
ENST00000644580.2:c.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA MANE Select	ENSP00000495855.2:n.211+3_211+4insTTTCATCTTATCAATTACTGAATTATG...
ENST00000645572.1:c.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA	ENSP00000494301.1:n.211+3_211+4insTTTCATCTTATCAATTACTGAATTATG...
ENST00000645762.1:n.325+3_325+4insTTTCATCTTATCAATTACTGAATTATGA
ENST00000645817.1:c.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA	ENSP00000495731.1:n.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTA...
ENST00000647226.1:c.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA	ENSP00000496024.1:n.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTA...
ENST00000375129.8:c.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA	ENSP00000364271.4:n.211+3_211+4insTTTCATCTTATCAATTACTGAATTATG...
ENST00000409117.7:c.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA	ENSP00000386647.3:n.211+3_211+4insTTTCATCTTATCAATTACTGAATTATG...
ENST00000437056.5:n.373_374insTTTCATCTTATCAATTACTGAATTATGA
ENST00000442710.5:c.53+3_53+4insTTTCATCTTATCAATTACTGAATTATGA
NM_001042702.3:c.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA	NP_001036167.1:n.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA
XM_005246627.1:c.220+3_220+4insTTTCATCTTATCAATTACTGAATTATGA	XP_005246684.1:n.220+3_220+4insTTTCATCTTATCAATTACTGAATTATGA
XM_005246628.2:c.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA	XP_005246685.1:n.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA
XM_005246629.2:c.202+3_202+4insTTTCATCTTATCAATTACTGAATTATGA	XP_005246686.1:n.202+3_202+4insTTTCATCTTATCAATTACTGAATTATGA
XM_011511247.1:c.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA	XP_011509549.1:n.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA
XM_011511248.1:c.280+3_280+4insTTTCATCTTATCAATTACTGAATTATGA	XP_011509550.1:n.280+3_280+4insTTTCATCTTATCAATTACTGAATTATGA
XM_011511249.1:c.-266-709_-266-708insTTTCATCTTATCAATTACTGAATTATGA	XP_011509551.1:n.-266-709_-266-708insTTTCATCTTATCAATTACTGAATT...
XM_011511250.1:c.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA	XP_011509552.1:n.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA...
XM_011511251.1:c.-266-709_-266-708insTTTCATCTTATCAATTACTGAATTATGA	XP_011509553.1:n.-266-709_-266-708insTTTCATCTTATCAATTACTGAATT...
XR_922929.1:n.983+3_983+4insTTTCATCTTATCAATTACTGAATTATGA
NM_001042702.4:c.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA	NP_001036167.1:n.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA
NM_001353775.1:c.220+3_220+4insTTTCATCTTATCAATTACTGAATTATGA	NP_001340704.1:n.220+3_220+4insTTTCATCTTATCAATTACTGAATTATGA
NM_001353776.1:c.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA	NP_001340705.1:n.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA
NM_001353777.1:c.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA	NP_001340706.1:n.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA...
NM_001353778.1:c.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA	NP_001340707.1:n.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA...
XM_005246629.4:c.202+3_202+4insTTTCATCTTATCAATTACTGAATTATGA	XP_005246686.1:n.202+3_202+4insTTTCATCTTATCAATTACTGAATTATGA
XM_011511247.3:c.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA	XP_011509549.1:n.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA
XM_011511249.3:c.-266-709_-266-708insTTTCATCTTATCAATTACTGAATTATGA	XP_011509551.1:n.-266-709_-266-708insTTTCATCTTATCAATTACTGAATT...
XM_017004221.2:c.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA	XP_016859710.1:n.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA
XM_017004224.2:c.-975_-974insTTTCATCTTATCAATTACTGAATTATGA	XP_016859713.1:n.-975_-974insTTTCATCTTATCAATTACTGAATTATGA
XM_024452927.1:c.-368+3_-368+4insTTTCATCTTATCAATTACTGAATTATGA	XP_024308695.1:n.-368+3_-368+4insTTTCATCTTATCAATTACTGAATTATGA...
XM_024452928.1:c.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA	XP_024308696.1:n.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA...
XR_001738753.2:n.2023+3_2023+4insTTTCATCTTATCAATTACTGAATTATGA
XR_002959300.1:n.2023+3_2023+4insTTTCATCTTATCAATTACTGAATTATGA
XR_922929.3:n.506+3_506+4insTTTCATCTTATCAATTACTGAATTATGA
NM_001042702.5:c.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA MANE Select	NP_001036167.1:n.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA
NM_001369912.1:c.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA	NP_001356841.1:n.211+3_211+4insTTTCATCTTATCAATTACTGAATTATGA
NM_001353775.2:c.220+3_220+4insTTTCATCTTATCAATTACTGAATTATGA	NP_001340704.1:n.220+3_220+4insTTTCATCTTATCAATTACTGAATTATGA
NM_001353776.2:c.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA	NP_001340705.1:n.316+3_316+4insTTTCATCTTATCAATTACTGAATTATGA
NM_001353778.2:c.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA	NP_001340707.1:n.-267+3_-267+4insTTTCATCTTATCAATTACTGAATTATGA...