Canonical Allele Identifier: CA721060322

Gene: PHKB

Linked Data

• dbSNP Id: rs1411380886
• gnomAD v3: 16-47698867-CAT-C
• gnomAD v4: 16-47698867-CAT-C
• MyVariant Identifiers: chr16:g.47732779_47732780del (hg19) ; chr16:g.47698868_47698869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698869_47698870del , CM000678.2:g.47698869_47698870del	GRCh38
NC_000016.9:g.47732780_47732781del , CM000678.1:g.47732780_47732781del	GRCh37
NC_000016.8:g.46290281_46290282del	NCBI36
NG_016598.1:g.242571_242572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+281_*1718+282del	ENSP00000512887.1:n.*1718+281_*1718+282del
ENST00000699276.1:c.*772+281_*772+282del	ENSP00000514257.1:n.*772+281_*772+282del
ENST00000323584.10:c.3144+281_3144+282del MANE Select	ENSP00000313504.5:n.3144+281_3144+282del
ENST00000299167.12:c.3144+281_3144+282del	ENSP00000299167.8:n.3144+281_3144+282del
ENST00000323584.9:c.3144+281_3144+282del	ENSP00000313504.5:n.3144+281_3144+282del
ENST00000564711.2:c.158+281_158+282del
ENST00000566044.5:c.3123+281_3123+282del	ENSP00000456729.1:n.3123+281_3123+282del
ENST00000566319.2:n.1960+281_1960+282del
NM_000293.2:c.3144+281_3144+282del	NP_000284.1:n.3144+281_3144+282del
NM_001031835.2:c.3123+281_3123+282del	NP_001027005.1:n.3123+281_3123+282del
XM_005255983.3:c.3144+281_3144+282del	XP_005256040.1:n.3144+281_3144+282del
XM_005255984.3:c.3123+281_3123+282del	XP_005256041.1:n.3123+281_3123+282del
XM_011523107.1:c.1722+281_1722+282del	XP_011521409.1:n.1722+281_1722+282del
NM_001363837.1:c.3144+281_3144+282del	NP_001350766.1:n.3144+281_3144+282del
XM_005255983.4:c.3144+281_3144+282del	XP_005256040.1:n.3144+281_3144+282del
XM_005255984.4:c.3123+281_3123+282del	XP_005256041.1:n.3123+281_3123+282del
XM_017023282.1:c.2031+281_2031+282del	XP_016878771.1:n.2031+281_2031+282del
XM_017023283.1:c.1722+281_1722+282del	XP_016878772.1:n.1722+281_1722+282del
XM_017023284.1:c.1722+281_1722+282del	XP_016878773.1:n.1722+281_1722+282del
XR_001751913.1:n.3068+281_3068+282del
NM_000293.3:c.3144+281_3144+282del MANE Select	NP_000284.1:n.3144+281_3144+282del
NM_001031835.3:c.3123+281_3123+282del	NP_001027005.1:n.3123+281_3123+282del