Canonical Allele Identifier: CA2220395001

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47596426_47596427delinsGA , CM000678.2:g.47596426_47596427delinsGA	GRCh38
NC_000016.9:g.47630337_47630338delinsGA , CM000678.1:g.47630337_47630338delinsGA	GRCh37
NC_000016.8:g.46187838_46187839delinsGA	NCBI36
NG_016598.1:g.140128_140129delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.1237_1238delinsGA	ENSP00000512887.1:p.Glu413=
ENST00000699276.1:c.1237_1238delinsGA	ENSP00000514257.1:p.Glu413=
ENST00000323584.10:c.1258_1259delinsGA MANE Select	ENSP00000313504.5:p.Glu420=
ENST00000299167.12:c.1258_1259delinsGA	ENSP00000299167.8:p.Glu420=
ENST00000323584.9:c.1258_1259delinsGA	ENSP00000313504.5:p.Glu420=
ENST00000566044.5:c.1237_1238delinsGA	ENSP00000456729.1:p.Glu413=
ENST00000566436.1:n.119_120delinsGA
NM_000293.2:c.1258_1259delinsGA	NP_000284.1:p.Glu420=
NM_001031835.2:c.1237_1238delinsGA	NP_001027005.1:p.Glu413=
XM_005255983.3:c.1258_1259delinsGA	XP_005256040.1:p.Glu420=
XM_005255984.3:c.1237_1238delinsGA	XP_005256041.1:p.Glu413=
XM_011523106.1:c.1258_1259delinsGA	XP_011521408.1:p.Glu420=
NM_001363837.1:c.1258_1259delinsGA	NP_001350766.1:p.Glu420=
XM_005255983.4:c.1258_1259delinsGA	XP_005256040.1:p.Glu420=
XM_005255984.4:c.1237_1238delinsGA	XP_005256041.1:p.Glu413=
XM_017023282.1:c.145_146delinsGA	XP_016878771.1:p.Glu49=
XM_017023283.1:c.-248_-247delinsGA	XP_016878772.1:n.-248_-247delinsGA
XM_017023284.1:c.-248_-247delinsGA	XP_016878773.1:n.-248_-247delinsGA
XR_001751913.1:n.1273_1274delinsGA
NM_000293.3:c.1258_1259delinsGA MANE Select	NP_000284.1:p.Glu420=
NM_001031835.3:c.1237_1238delinsGA	NP_001027005.1:p.Glu413=