Canonical Allele Identifier: CA2575984607

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696483_47696484del , CM000678.2:g.47696483_47696484del	GRCh38
NC_000016.9:g.47730394_47730395del , CM000678.1:g.47730394_47730395del	GRCh37
NC_000016.8:g.46287895_46287896del	NCBI36
NG_016598.1:g.240185_240186del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1572_*1573del	ENSP00000512887.1:n.*1572_*1573del
ENST00000699276.1:c.*626_*627del	ENSP00000514257.1:n.*626_*627del
ENST00000323584.10:c.2998_2999del MANE Select	ENSP00000313504.5:p.Val1000ArgfsTer?
ENST00000299167.12:c.2998_2999del	ENSP00000299167.8:p.Val1000ArgfsTer?
ENST00000323584.9:c.2998_2999del	ENSP00000313504.5:p.Val1000ArgfsTer?
ENST00000564711.2:c.12_13del
ENST00000566044.5:c.2977_2978del	ENSP00000456729.1:p.Val993ArgfsTer?
ENST00000566319.2:n.1814_1815del
NM_000293.2:c.2998_2999del	NP_000284.1:p.Val1000ArgfsTer?
NM_001031835.2:c.2977_2978del	NP_001027005.1:p.Val993ArgfsTer?
XM_005255983.3:c.2998_2999del	XP_005256040.1:p.Val1000ArgfsTer?
XM_005255984.3:c.2977_2978del	XP_005256041.1:p.Val993ArgfsTer?
XM_011523107.1:c.1576_1577del	XP_011521409.1:p.Val526ArgfsTer?
NM_001363837.1:c.2998_2999del	NP_001350766.1:p.Val1000ArgfsTer?
XM_005255983.4:c.2998_2999del	XP_005256040.1:p.Val1000ArgfsTer?
XM_005255984.4:c.2977_2978del	XP_005256041.1:p.Val993ArgfsTer?
XM_017023282.1:c.1885_1886del	XP_016878771.1:p.Val629ArgfsTer?
XM_017023283.1:c.1576_1577del	XP_016878772.1:p.Val526ArgfsTer?
XM_017023284.1:c.1576_1577del	XP_016878773.1:p.Val526ArgfsTer?
XR_001751913.1:n.2922_2923del
NM_000293.3:c.2998_2999del MANE Select	NP_000284.1:p.Val1000ArgfsTer?
NM_001031835.3:c.2977_2978del	NP_001027005.1:p.Val993ArgfsTer?