Canonical Allele Identifier: CA2695223307

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696408_47696411delinsCATT , CM000678.2:g.47696408_47696411delinsCATT	GRCh38
NC_000016.9:g.47730319_47730322delinsCATT , CM000678.1:g.47730319_47730322delinsCATT	GRCh37
NC_000016.8:g.46287820_46287823delinsCATT	NCBI36
NG_016598.1:g.240110_240113delinsCATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*1497_*1500delinsCATT	ENSP00000512887.1:n.*1497_*1500delinsCATT...
ENST00000699276.1:c.*551_*554delinsCATT	ENSP00000514257.1:n.*551_*554delinsCATT
ENST00000323584.10:c.2923_2926delinsCATT MANE Select	ENSP00000313504.5:p.Tyr975HisfsTer2
ENST00000299167.12:c.2923_2926delinsCATT	ENSP00000299167.8:p.Tyr975HisfsTer2
ENST00000323584.9:c.2923_2926delinsCATT	ENSP00000313504.5:p.Tyr975HisfsTer2
ENST00000566044.5:c.2902_2905delinsCATT	ENSP00000456729.1:p.Tyr968HisfsTer2
ENST00000566319.2:n.1739_1742delinsCATT
NM_000293.2:c.2923_2926delinsCATT	NP_000284.1:p.Tyr975HisfsTer2
NM_001031835.2:c.2902_2905delinsCATT	NP_001027005.1:p.Tyr968HisfsTer2
XM_005255983.3:c.2923_2926delinsCATT	XP_005256040.1:p.Tyr975HisfsTer2
XM_005255984.3:c.2902_2905delinsCATT	XP_005256041.1:p.Tyr968HisfsTer2
XM_011523107.1:c.1501_1504delinsCATT	XP_011521409.1:p.Tyr501HisfsTer2
NM_001363837.1:c.2923_2926delinsCATT	NP_001350766.1:p.Tyr975HisfsTer2
XM_005255983.4:c.2923_2926delinsCATT	XP_005256040.1:p.Tyr975HisfsTer2
XM_005255984.4:c.2902_2905delinsCATT	XP_005256041.1:p.Tyr968HisfsTer2
XM_017023282.1:c.1810_1813delinsCATT	XP_016878771.1:p.Tyr604HisfsTer2
XM_017023283.1:c.1501_1504delinsCATT	XP_016878772.1:p.Tyr501HisfsTer2
XM_017023284.1:c.1501_1504delinsCATT	XP_016878773.1:p.Tyr501HisfsTer2
XR_001751913.1:n.2847_2850delinsCATT
NM_000293.3:c.2923_2926delinsCATT MANE Select	NP_000284.1:p.Tyr975HisfsTer2
NM_001031835.3:c.2902_2905delinsCATT	NP_001027005.1:p.Tyr968HisfsTer2