Canonical Allele Identifier: CA280223485

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47593454_47593456del , CM000678.2:g.47593454_47593456del	GRCh38
NC_000016.9:g.47627365_47627367del , CM000678.1:g.47627365_47627367del	GRCh37
NC_000016.8:g.46184866_46184868del	NCBI36
NG_016598.1:g.137156_137158del

Transcript Alleles

HGVS	Amino-acid Change
NM_000293.3:c.1069-46_1069-44del MANE Select	NP_000284.1:n.1069-46_1069-44del
ENST00000323584.10:c.1069-46_1069-44del MANE Select	ENSP00000313504.5:n.1069-46_1069-44del
NM_000293.2:c.1069-46_1069-44del	NP_000284.1:n.1069-46_1069-44del
NM_001031835.2:c.1048-46_1048-44del	NP_001027005.1:n.1048-46_1048-44del
NM_001031835.3:c.1048-46_1048-44del	NP_001027005.1:n.1048-46_1048-44del
NM_001363837.1:c.1069-46_1069-44del	NP_001350766.1:n.1069-46_1069-44del
ENST00000299167.12:c.1069-46_1069-44del	ENSP00000299167.8:n.1069-46_1069-44del
ENST00000323584.9:c.1069-46_1069-44del	ENSP00000313504.5:n.1069-46_1069-44del
ENST00000566044.5:c.1048-46_1048-44del	ENSP00000456729.1:n.1048-46_1048-44del
ENST00000696809.1:c.1048-46_1048-44del	ENSP00000512887.1:n.1048-46_1048-44del
ENST00000699276.1:c.1048-46_1048-44del	ENSP00000514257.1:n.1048-46_1048-44del
XM_005255983.3:c.1069-46_1069-44del	XP_005256040.1:n.1069-46_1069-44del
XM_005255983.4:c.1069-46_1069-44del	XP_005256040.1:n.1069-46_1069-44del
XM_005255984.3:c.1048-46_1048-44del	XP_005256041.1:n.1048-46_1048-44del
XM_005255984.4:c.1048-46_1048-44del	XP_005256041.1:n.1048-46_1048-44del
XM_011523106.1:c.1069-46_1069-44del	XP_011521408.1:n.1069-46_1069-44del
XM_017023282.1:c.-45-46_-45-44del	XP_016878771.1:n.-45-46_-45-44del
XM_017023283.1:c.-437-46_-437-44del	XP_016878772.1:n.-437-46_-437-44del
XM_017023284.1:c.-437-46_-437-44del	XP_016878773.1:n.-437-46_-437-44del
XR_001751913.1:n.1084-46_1084-44del