Canonical Allele Identifier: CA721058539

Gene: PHKB

Linked Data

• dbSNP Id: rs1196809552
• gnomAD v3: 16-47696220-TAGTA-T
• gnomAD v4: 16-47696220-TAGTA-T
• MyVariant Identifiers: chr16:g.47730132_47730135del (hg19) ; chr16:g.47696221_47696224del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696221_47696224del , CM000678.2:g.47696221_47696224del	GRCh38
NC_000016.9:g.47730132_47730135del , CM000678.1:g.47730132_47730135del	GRCh37
NC_000016.8:g.46287633_46287636del	NCBI36
NG_016598.1:g.239923_239926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1470-160_*1470-157del	ENSP00000512887.1:n.*1470-160_*1470-157del
ENST00000699276.1:c.*524-160_*524-157del	ENSP00000514257.1:n.*524-160_*524-157del
ENST00000323584.10:c.2896-160_2896-157del MANE Select	ENSP00000313504.5:n.2896-160_2896-157del
ENST00000299167.12:c.2896-160_2896-157del	ENSP00000299167.8:n.2896-160_2896-157del
ENST00000323584.9:c.2896-160_2896-157del	ENSP00000313504.5:n.2896-160_2896-157del
ENST00000566044.5:c.2875-160_2875-157del	ENSP00000456729.1:n.2875-160_2875-157del
ENST00000566319.2:n.1712-160_1712-157del
NM_000293.2:c.2896-160_2896-157del	NP_000284.1:n.2896-160_2896-157del
NM_001031835.2:c.2875-160_2875-157del	NP_001027005.1:n.2875-160_2875-157del
XM_005255983.3:c.2896-160_2896-157del	XP_005256040.1:n.2896-160_2896-157del
XM_005255984.3:c.2875-160_2875-157del	XP_005256041.1:n.2875-160_2875-157del
XM_011523107.1:c.1474-160_1474-157del	XP_011521409.1:n.1474-160_1474-157del
NM_001363837.1:c.2896-160_2896-157del	NP_001350766.1:n.2896-160_2896-157del
XM_005255983.4:c.2896-160_2896-157del	XP_005256040.1:n.2896-160_2896-157del
XM_005255984.4:c.2875-160_2875-157del	XP_005256041.1:n.2875-160_2875-157del
XM_017023282.1:c.1783-160_1783-157del	XP_016878771.1:n.1783-160_1783-157del
XM_017023283.1:c.1474-160_1474-157del	XP_016878772.1:n.1474-160_1474-157del
XM_017023284.1:c.1474-160_1474-157del	XP_016878773.1:n.1474-160_1474-157del
XR_001751913.1:n.2820-160_2820-157del
NM_000293.3:c.2896-160_2896-157del MANE Select	NP_000284.1:n.2896-160_2896-157del
NM_001031835.3:c.2875-160_2875-157del	NP_001027005.1:n.2875-160_2875-157del