Canonical Allele Identifier: CA280739420

Gene: PHKB

Linked Data

• dbSNP Id: rs1010106200
• gnomAD v4: 16-47696363-TG-T
• MyVariant Identifiers: chr16:g.47730275del (hg19) ; chr16:g.47696364del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696365del , CM000678.2:g.47696365del	GRCh38
NC_000016.9:g.47730276del , CM000678.1:g.47730276del	GRCh37
NC_000016.8:g.46287777del	NCBI36
NG_016598.1:g.240067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1470-16del	ENSP00000512887.1:n.*1470-16del
ENST00000699276.1:c.*524-16del	ENSP00000514257.1:n.*524-16del
ENST00000323584.10:c.2896-16del MANE Select	ENSP00000313504.5:n.2896-16del
ENST00000299167.12:c.2896-16del	ENSP00000299167.8:n.2896-16del
ENST00000323584.9:c.2896-16del	ENSP00000313504.5:n.2896-16del
ENST00000566044.5:c.2875-16del	ENSP00000456729.1:n.2875-16del
ENST00000566319.2:n.1712-16del
NM_000293.2:c.2896-16del	NP_000284.1:n.2896-16del
NM_001031835.2:c.2875-16del	NP_001027005.1:n.2875-16del
XM_005255983.3:c.2896-16del	XP_005256040.1:n.2896-16del
XM_005255984.3:c.2875-16del	XP_005256041.1:n.2875-16del
XM_011523107.1:c.1474-16del	XP_011521409.1:n.1474-16del
NM_001363837.1:c.2896-16del	NP_001350766.1:n.2896-16del
XM_005255983.4:c.2896-16del	XP_005256040.1:n.2896-16del
XM_005255984.4:c.2875-16del	XP_005256041.1:n.2875-16del
XM_017023282.1:c.1783-16del	XP_016878771.1:n.1783-16del
XM_017023283.1:c.1474-16del	XP_016878772.1:n.1474-16del
XM_017023284.1:c.1474-16del	XP_016878773.1:n.1474-16del
XR_001751913.1:n.2820-16del
NM_000293.3:c.2896-16del MANE Select	NP_000284.1:n.2896-16del
NM_001031835.3:c.2875-16del	NP_001027005.1:n.2875-16del