Canonical Allele Identifier: CA1310480950

Gene: PJVK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178453650_178453653delinsCATT , CM000664.2:g.178453650_178453653delinsCATT	GRCh38
NC_000002.11:g.179318377_179318380delinsCATT , CM000664.1:g.179318377_179318380delinsCATT	GRCh37
NC_000002.10:g.179026623_179026626delinsCATT	NCBI36
NG_009053.1:g.2579_2582delinsAATG
NG_012186.1:g.7215_7218delinsCATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642192.1:c.-267+30_-267+33delinsCATT	ENSP00000494225.1:n.-267+30_-267+33delinsCATT
ENST00000642492.1:c.-368+30_-368+33delinsCATT	ENSP00000496267.1:n.-368+30_-368+33delinsCATT
ENST00000643738.1:c.-267+30_-267+33delinsCATT	ENSP00000493684.1:n.-267+30_-267+33delinsCATT
ENST00000644554.1:c.-267+30_-267+33delinsCATT	ENSP00000495037.1:n.-267+30_-267+33delinsCATT
ENST00000644580.2:c.211+30_211+33delinsCATT MANE Select	ENSP00000495855.2:n.211+30_211+33delinsCATT
ENST00000645572.1:c.211+30_211+33delinsCATT	ENSP00000494301.1:n.211+30_211+33delinsCATT
ENST00000645762.1:n.325+30_325+33delinsCATT
ENST00000645817.1:c.-267+30_-267+33delinsCATT	ENSP00000495731.1:n.-267+30_-267+33delinsCATT
ENST00000647226.1:c.-267+30_-267+33delinsCATT	ENSP00000496024.1:n.-267+30_-267+33delinsCATT
ENST00000375129.8:c.211+30_211+33delinsCATT	ENSP00000364271.4:n.211+30_211+33delinsCATT
ENST00000409117.7:c.211+30_211+33delinsCATT	ENSP00000386647.3:n.211+30_211+33delinsCATT
ENST00000437056.5:n.400_403delinsCATT
ENST00000442710.5:c.53+30_53+33delinsCATT
NM_001042702.3:c.211+30_211+33delinsCATT	NP_001036167.1:n.211+30_211+33delinsCATT
XM_005246627.1:c.220+30_220+33delinsCATT	XP_005246684.1:n.220+30_220+33delinsCATT
XM_005246628.2:c.316+30_316+33delinsCATT	XP_005246685.1:n.316+30_316+33delinsCATT
XM_005246629.2:c.202+30_202+33delinsCATT	XP_005246686.1:n.202+30_202+33delinsCATT
XM_011511247.1:c.316+30_316+33delinsCATT	XP_011509549.1:n.316+30_316+33delinsCATT
XM_011511248.1:c.280+30_280+33delinsCATT	XP_011509550.1:n.280+30_280+33delinsCATT
XM_011511249.1:c.-266-682_-266-679delinsCATT	XP_011509551.1:n.-266-682_-266-679delinsCATT
XM_011511250.1:c.-267+30_-267+33delinsCATT	XP_011509552.1:n.-267+30_-267+33delinsCATT
XM_011511251.1:c.-266-682_-266-679delinsCATT	XP_011509553.1:n.-266-682_-266-679delinsCATT
XR_922929.1:n.983+30_983+33delinsCATT
NM_001042702.4:c.211+30_211+33delinsCATT	NP_001036167.1:n.211+30_211+33delinsCATT
NM_001353775.1:c.220+30_220+33delinsCATT	NP_001340704.1:n.220+30_220+33delinsCATT
NM_001353776.1:c.316+30_316+33delinsCATT	NP_001340705.1:n.316+30_316+33delinsCATT
NM_001353777.1:c.-267+30_-267+33delinsCATT	NP_001340706.1:n.-267+30_-267+33delinsCATT
NM_001353778.1:c.-267+30_-267+33delinsCATT	NP_001340707.1:n.-267+30_-267+33delinsCATT
XM_005246629.4:c.202+30_202+33delinsCATT	XP_005246686.1:n.202+30_202+33delinsCATT
XM_011511247.3:c.316+30_316+33delinsCATT	XP_011509549.1:n.316+30_316+33delinsCATT
XM_011511249.3:c.-266-682_-266-679delinsCATT	XP_011509551.1:n.-266-682_-266-679delinsCATT
XM_017004221.2:c.316+30_316+33delinsCATT	XP_016859710.1:n.316+30_316+33delinsCATT
XM_017004224.2:c.-948_-945delinsCATT	XP_016859713.1:n.-948_-945delinsCATT
XM_024452927.1:c.-368+30_-368+33delinsCATT	XP_024308695.1:n.-368+30_-368+33delinsCATT
XM_024452928.1:c.-267+30_-267+33delinsCATT	XP_024308696.1:n.-267+30_-267+33delinsCATT
XR_001738753.2:n.2023+30_2023+33delinsCATT
XR_002959300.1:n.2023+30_2023+33delinsCATT
XR_922929.3:n.506+30_506+33delinsCATT
NM_001042702.5:c.211+30_211+33delinsCATT MANE Select	NP_001036167.1:n.211+30_211+33delinsCATT
NM_001369912.1:c.211+30_211+33delinsCATT	NP_001356841.1:n.211+30_211+33delinsCATT
NM_001353775.2:c.220+30_220+33delinsCATT	NP_001340704.1:n.220+30_220+33delinsCATT
NM_001353776.2:c.316+30_316+33delinsCATT	NP_001340705.1:n.316+30_316+33delinsCATT
NM_001353778.2:c.-267+30_-267+33delinsCATT	NP_001340707.1:n.-267+30_-267+33delinsCATT