Canonical Allele Identifier: CA2220493733

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698849_47698850delinsGT , CM000678.2:g.47698849_47698850delinsGT	GRCh38
NC_000016.9:g.47732760_47732761delinsGT , CM000678.1:g.47732760_47732761delinsGT	GRCh37
NC_000016.8:g.46290261_46290262delinsGT	NCBI36
NG_016598.1:g.242551_242552delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+261_*1718+262delinsGT	ENSP00000512887.1:n.*1718+261_*1718+262delinsGT
ENST00000699276.1:c.*772+261_*772+262delinsGT	ENSP00000514257.1:n.*772+261_*772+262delinsGT
ENST00000323584.10:c.3144+261_3144+262delinsGT MANE Select	ENSP00000313504.5:n.3144+261_3144+262delinsGT
ENST00000299167.12:c.3144+261_3144+262delinsGT	ENSP00000299167.8:n.3144+261_3144+262delinsGT
ENST00000323584.9:c.3144+261_3144+262delinsGT	ENSP00000313504.5:n.3144+261_3144+262delinsGT
ENST00000564711.2:c.158+261_158+262delinsGT
ENST00000566044.5:c.3123+261_3123+262delinsGT	ENSP00000456729.1:n.3123+261_3123+262delinsGT
ENST00000566319.2:n.1960+261_1960+262delinsGT
NM_000293.2:c.3144+261_3144+262delinsGT	NP_000284.1:n.3144+261_3144+262delinsGT
NM_001031835.2:c.3123+261_3123+262delinsGT	NP_001027005.1:n.3123+261_3123+262delinsGT
XM_005255983.3:c.3144+261_3144+262delinsGT	XP_005256040.1:n.3144+261_3144+262delinsGT
XM_005255984.3:c.3123+261_3123+262delinsGT	XP_005256041.1:n.3123+261_3123+262delinsGT
XM_011523107.1:c.1722+261_1722+262delinsGT	XP_011521409.1:n.1722+261_1722+262delinsGT
NM_001363837.1:c.3144+261_3144+262delinsGT	NP_001350766.1:n.3144+261_3144+262delinsGT
XM_005255983.4:c.3144+261_3144+262delinsGT	XP_005256040.1:n.3144+261_3144+262delinsGT
XM_005255984.4:c.3123+261_3123+262delinsGT	XP_005256041.1:n.3123+261_3123+262delinsGT
XM_017023282.1:c.2031+261_2031+262delinsGT	XP_016878771.1:n.2031+261_2031+262delinsGT
XM_017023283.1:c.1722+261_1722+262delinsGT	XP_016878772.1:n.1722+261_1722+262delinsGT
XM_017023284.1:c.1722+261_1722+262delinsGT	XP_016878773.1:n.1722+261_1722+262delinsGT
XR_001751913.1:n.3068+261_3068+262delinsGT
NM_000293.3:c.3144+261_3144+262delinsGT MANE Select	NP_000284.1:n.3144+261_3144+262delinsGT
NM_001031835.3:c.3123+261_3123+262delinsGT	NP_001027005.1:n.3123+261_3123+262delinsGT