Canonical Allele Identifier: CA495361507

Gene: PHKB

Linked Data

• ClinVar Variation Id: 2082290
• ClinVar RCV Id: RCV002995916
• dbSNP Id: rs1291880984
• gnomAD v2: 16-47732516-T-TC
• gnomAD v3: 16-47698605-T-TC
• gnomAD v4: 16-47698605-T-TC
• MyVariant Identifiers: chr16:g.47732516_47732517insC (hg19) ; chr16:g.47698605_47698606insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698605_47698606insC , CM000678.2:g.47698605_47698606insC	GRCh38
NC_000016.9:g.47732516_47732517insC , CM000678.1:g.47732516_47732517insC	GRCh37
NC_000016.8:g.46290017_46290018insC	NCBI36
NG_016598.1:g.242307_242308insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+17_*1718+18insC	ENSP00000512887.1:n.*1718+17_*1718+18insC
ENST00000699276.1:c.*772+17_*772+18insC	ENSP00000514257.1:n.*772+17_*772+18insC
ENST00000323584.10:c.3144+17_3144+18insC MANE Select	ENSP00000313504.5:n.3144+17_3144+18insC
ENST00000299167.12:c.3144+17_3144+18insC	ENSP00000299167.8:n.3144+17_3144+18insC
ENST00000323584.9:c.3144+17_3144+18insC	ENSP00000313504.5:n.3144+17_3144+18insC
ENST00000564711.2:c.158+17_158+18insC
ENST00000566044.5:c.3123+17_3123+18insC	ENSP00000456729.1:n.3123+17_3123+18insC
ENST00000566319.2:n.1960+17_1960+18insC
NM_000293.2:c.3144+17_3144+18insC	NP_000284.1:n.3144+17_3144+18insC
NM_001031835.2:c.3123+17_3123+18insC	NP_001027005.1:n.3123+17_3123+18insC
XM_005255983.3:c.3144+17_3144+18insC	XP_005256040.1:n.3144+17_3144+18insC
XM_005255984.3:c.3123+17_3123+18insC	XP_005256041.1:n.3123+17_3123+18insC
XM_011523107.1:c.1722+17_1722+18insC	XP_011521409.1:n.1722+17_1722+18insC
NM_001363837.1:c.3144+17_3144+18insC	NP_001350766.1:n.3144+17_3144+18insC
XM_005255983.4:c.3144+17_3144+18insC	XP_005256040.1:n.3144+17_3144+18insC
XM_005255984.4:c.3123+17_3123+18insC	XP_005256041.1:n.3123+17_3123+18insC
XM_017023282.1:c.2031+17_2031+18insC	XP_016878771.1:n.2031+17_2031+18insC
XM_017023283.1:c.1722+17_1722+18insC	XP_016878772.1:n.1722+17_1722+18insC
XM_017023284.1:c.1722+17_1722+18insC	XP_016878773.1:n.1722+17_1722+18insC
XR_001751913.1:n.3068+17_3068+18insC
NM_000293.3:c.3144+17_3144+18insC MANE Select	NP_000284.1:n.3144+17_3144+18insC
NM_001031835.3:c.3123+17_3123+18insC	NP_001027005.1:n.3123+17_3123+18insC