Canonical Allele Identifier: CA10643682

Gene: PHKB

Linked Data

• ClinVar Variation Id: 319361
• ClinVar RCV Id: RCV000283550
• dbSNP Id: rs1555500966
• MyVariant Identifiers: chr16:g.47732511dupG (hg19) ; chr16:g.47732511_47732512insG (hg19) ; chr16:g.47698600dupG (hg38) ; chr16:g.47698600_47698601insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698600dup , CM000678.2:g.47698600dup	GRCh38
NC_000016.9:g.47732511dup , CM000678.1:g.47732511dup	GRCh37
NC_000016.8:g.46290012dup	NCBI36
NG_016598.1:g.242302dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*1718+12dup	ENSP00000512887.1:n.*1718+12dup
ENST00000699276.1:c.*772+12dup	ENSP00000514257.1:n.*772+12dup
ENST00000323584.10:c.3144+12dup MANE Select	ENSP00000313504.5:n.3144+12dup
ENST00000299167.12:c.3144+12dup	ENSP00000299167.8:n.3144+12dup
ENST00000323584.9:c.3144+12dup	ENSP00000313504.5:n.3144+12dup
ENST00000564711.2:c.158+12dup
ENST00000566044.5:c.3123+12dup	ENSP00000456729.1:n.3123+12dup
ENST00000566319.2:n.1960+12dup
NM_000293.2:c.3144+12dup	NP_000284.1:n.3144+12dup
NM_001031835.2:c.3123+12dup	NP_001027005.1:n.3123+12dup
XM_005255983.3:c.3144+12dup	XP_005256040.1:n.3144+12dup
XM_005255984.3:c.3123+12dup	XP_005256041.1:n.3123+12dup
XM_011523107.1:c.1722+12dup	XP_011521409.1:n.1722+12dup
NM_001363837.1:c.3144+12dup	NP_001350766.1:n.3144+12dup
XM_005255983.4:c.3144+12dup	XP_005256040.1:n.3144+12dup
XM_005255984.4:c.3123+12dup	XP_005256041.1:n.3123+12dup
XM_017023282.1:c.2031+12dup	XP_016878771.1:n.2031+12dup
XM_017023283.1:c.1722+12dup	XP_016878772.1:n.1722+12dup
XM_017023284.1:c.1722+12dup	XP_016878773.1:n.1722+12dup
XR_001751913.1:n.3068+12dup
NM_000293.3:c.3144+12dup MANE Select	NP_000284.1:n.3144+12dup
NM_001031835.3:c.3123+12dup	NP_001027005.1:n.3123+12dup