Canonical Allele Identifier: CA2220493739

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698867_47698869delinsCAT , CM000678.2:g.47698867_47698869delinsCAT	GRCh38
NC_000016.9:g.47732778_47732780delinsCAT , CM000678.1:g.47732778_47732780delinsCAT	GRCh37
NC_000016.8:g.46290279_46290281delinsCAT	NCBI36
NG_016598.1:g.242569_242571delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+279_*1718+281delinsCAT	ENSP00000512887.1:n.*1718+279_*1718+281delinsCAT
ENST00000699276.1:c.*772+279_*772+281delinsCAT	ENSP00000514257.1:n.*772+279_*772+281delinsCAT
ENST00000323584.10:c.3144+279_3144+281delinsCAT MANE Select	ENSP00000313504.5:n.3144+279_3144+281delinsCAT
ENST00000299167.12:c.3144+279_3144+281delinsCAT	ENSP00000299167.8:n.3144+279_3144+281delinsCAT
ENST00000323584.9:c.3144+279_3144+281delinsCAT	ENSP00000313504.5:n.3144+279_3144+281delinsCAT
ENST00000564711.2:c.158+279_158+281delinsCAT
ENST00000566044.5:c.3123+279_3123+281delinsCAT	ENSP00000456729.1:n.3123+279_3123+281delinsCAT
ENST00000566319.2:n.1960+279_1960+281delinsCAT
NM_000293.2:c.3144+279_3144+281delinsCAT	NP_000284.1:n.3144+279_3144+281delinsCAT
NM_001031835.2:c.3123+279_3123+281delinsCAT	NP_001027005.1:n.3123+279_3123+281delinsCAT
XM_005255983.3:c.3144+279_3144+281delinsCAT	XP_005256040.1:n.3144+279_3144+281delinsCAT
XM_005255984.3:c.3123+279_3123+281delinsCAT	XP_005256041.1:n.3123+279_3123+281delinsCAT
XM_011523107.1:c.1722+279_1722+281delinsCAT	XP_011521409.1:n.1722+279_1722+281delinsCAT
NM_001363837.1:c.3144+279_3144+281delinsCAT	NP_001350766.1:n.3144+279_3144+281delinsCAT
XM_005255983.4:c.3144+279_3144+281delinsCAT	XP_005256040.1:n.3144+279_3144+281delinsCAT
XM_005255984.4:c.3123+279_3123+281delinsCAT	XP_005256041.1:n.3123+279_3123+281delinsCAT
XM_017023282.1:c.2031+279_2031+281delinsCAT	XP_016878771.1:n.2031+279_2031+281delinsCAT
XM_017023283.1:c.1722+279_1722+281delinsCAT	XP_016878772.1:n.1722+279_1722+281delinsCAT
XM_017023284.1:c.1722+279_1722+281delinsCAT	XP_016878773.1:n.1722+279_1722+281delinsCAT
XR_001751913.1:n.3068+279_3068+281delinsCAT
NM_000293.3:c.3144+279_3144+281delinsCAT MANE Select	NP_000284.1:n.3144+279_3144+281delinsCAT
NM_001031835.3:c.3123+279_3123+281delinsCAT	NP_001027005.1:n.3123+279_3123+281delinsCAT