Canonical Allele Identifier: CA2220492635

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696200_47696202delinsAAT , CM000678.2:g.47696200_47696202delinsAAT	GRCh38
NC_000016.9:g.47730111_47730113delinsAAT , CM000678.1:g.47730111_47730113delinsAAT	GRCh37
NC_000016.8:g.46287612_46287614delinsAAT	NCBI36
NG_016598.1:g.239902_239904delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1470-181_*1470-179delinsAAT	ENSP00000512887.1:n.*1470-181_*1470-179delinsAAT
ENST00000699276.1:c.*524-181_*524-179delinsAAT	ENSP00000514257.1:n.*524-181_*524-179delinsAAT
ENST00000323584.10:c.2896-181_2896-179delinsAAT MANE Select	ENSP00000313504.5:n.2896-181_2896-179delinsAAT
ENST00000299167.12:c.2896-181_2896-179delinsAAT	ENSP00000299167.8:n.2896-181_2896-179delinsAAT
ENST00000323584.9:c.2896-181_2896-179delinsAAT	ENSP00000313504.5:n.2896-181_2896-179delinsAAT
ENST00000566044.5:c.2875-181_2875-179delinsAAT	ENSP00000456729.1:n.2875-181_2875-179delinsAAT
ENST00000566319.2:n.1712-181_1712-179delinsAAT
NM_000293.2:c.2896-181_2896-179delinsAAT	NP_000284.1:n.2896-181_2896-179delinsAAT
NM_001031835.2:c.2875-181_2875-179delinsAAT	NP_001027005.1:n.2875-181_2875-179delinsAAT
XM_005255983.3:c.2896-181_2896-179delinsAAT	XP_005256040.1:n.2896-181_2896-179delinsAAT
XM_005255984.3:c.2875-181_2875-179delinsAAT	XP_005256041.1:n.2875-181_2875-179delinsAAT
XM_011523107.1:c.1474-181_1474-179delinsAAT	XP_011521409.1:n.1474-181_1474-179delinsAAT
NM_001363837.1:c.2896-181_2896-179delinsAAT	NP_001350766.1:n.2896-181_2896-179delinsAAT
XM_005255983.4:c.2896-181_2896-179delinsAAT	XP_005256040.1:n.2896-181_2896-179delinsAAT
XM_005255984.4:c.2875-181_2875-179delinsAAT	XP_005256041.1:n.2875-181_2875-179delinsAAT
XM_017023282.1:c.1783-181_1783-179delinsAAT	XP_016878771.1:n.1783-181_1783-179delinsAAT
XM_017023283.1:c.1474-181_1474-179delinsAAT	XP_016878772.1:n.1474-181_1474-179delinsAAT
XM_017023284.1:c.1474-181_1474-179delinsAAT	XP_016878773.1:n.1474-181_1474-179delinsAAT
XR_001751913.1:n.2820-181_2820-179delinsAAT
NM_000293.3:c.2896-181_2896-179delinsAAT MANE Select	NP_000284.1:n.2896-181_2896-179delinsAAT
NM_001031835.3:c.2875-181_2875-179delinsAAT	NP_001027005.1:n.2875-181_2875-179delinsAAT