Canonical Allele Identifier: CA2575984606

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696427_47696428del , CM000678.2:g.47696427_47696428del	GRCh38
NC_000016.9:g.47730338_47730339del , CM000678.1:g.47730338_47730339del	GRCh37
NC_000016.8:g.46287839_46287840del	NCBI36
NG_016598.1:g.240129_240130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1516_*1517del	ENSP00000512887.1:n.*1516_*1517del
ENST00000699276.1:c.*570_*571del	ENSP00000514257.1:n.*570_*571del
ENST00000323584.10:c.2942_2943del MANE Select	ENSP00000313504.5:p.Leu981ProfsTer3
ENST00000299167.12:c.2942_2943del	ENSP00000299167.8:p.Leu981ProfsTer3
ENST00000323584.9:c.2942_2943del	ENSP00000313504.5:p.Leu981ProfsTer3
ENST00000566044.5:c.2921_2922del	ENSP00000456729.1:p.Leu974ProfsTer3
ENST00000566319.2:n.1758_1759del
NM_000293.2:c.2942_2943del	NP_000284.1:p.Leu981ProfsTer3
NM_001031835.2:c.2921_2922del	NP_001027005.1:p.Leu974ProfsTer3
XM_005255983.3:c.2942_2943del	XP_005256040.1:p.Leu981ProfsTer3
XM_005255984.3:c.2921_2922del	XP_005256041.1:p.Leu974ProfsTer3
XM_011523107.1:c.1520_1521del	XP_011521409.1:p.Leu507ProfsTer3
NM_001363837.1:c.2942_2943del	NP_001350766.1:p.Leu981ProfsTer3
XM_005255983.4:c.2942_2943del	XP_005256040.1:p.Leu981ProfsTer3
XM_005255984.4:c.2921_2922del	XP_005256041.1:p.Leu974ProfsTer3
XM_017023282.1:c.1829_1830del	XP_016878771.1:p.Leu610ProfsTer3
XM_017023283.1:c.1520_1521del	XP_016878772.1:p.Leu507ProfsTer3
XM_017023284.1:c.1520_1521del	XP_016878773.1:p.Leu507ProfsTer3
XR_001751913.1:n.2866_2867del
NM_000293.3:c.2942_2943del MANE Select	NP_000284.1:p.Leu981ProfsTer3
NM_001031835.3:c.2921_2922del	NP_001027005.1:p.Leu974ProfsTer3