Canonical Allele Identifier: CA977063075

Gene: PHKB

Linked Data

• gnomAD v3: 16-47698601-C-CTTTTTTTT
• gnomAD v4: 16-47698601-C-CTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698615_47698622dup , CM000678.2:g.47698615_47698622dup	GRCh38
NC_000016.9:g.47732526_47732533dup , CM000678.1:g.47732526_47732533dup	GRCh37
NC_000016.8:g.46290027_46290034dup	NCBI36
NG_016598.1:g.242317_242324dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+27_*1718+34dup	ENSP00000512887.1:n.*1718+27_*1718+34dup
ENST00000699276.1:c.*772+27_*772+34dup	ENSP00000514257.1:n.*772+27_*772+34dup
ENST00000323584.10:c.3144+27_3144+34dup MANE Select	ENSP00000313504.5:n.3144+27_3144+34dup
ENST00000299167.12:c.3144+27_3144+34dup	ENSP00000299167.8:n.3144+27_3144+34dup
ENST00000323584.9:c.3144+27_3144+34dup	ENSP00000313504.5:n.3144+27_3144+34dup
ENST00000564711.2:c.158+27_158+34dup
ENST00000566044.5:c.3123+27_3123+34dup	ENSP00000456729.1:n.3123+27_3123+34dup
ENST00000566319.2:n.1960+27_1960+34dup
NM_000293.2:c.3144+27_3144+34dup	NP_000284.1:n.3144+27_3144+34dup
NM_001031835.2:c.3123+27_3123+34dup	NP_001027005.1:n.3123+27_3123+34dup
XM_005255983.3:c.3144+27_3144+34dup	XP_005256040.1:n.3144+27_3144+34dup
XM_005255984.3:c.3123+27_3123+34dup	XP_005256041.1:n.3123+27_3123+34dup
XM_011523107.1:c.1722+27_1722+34dup	XP_011521409.1:n.1722+27_1722+34dup
NM_001363837.1:c.3144+27_3144+34dup	NP_001350766.1:n.3144+27_3144+34dup
XM_005255983.4:c.3144+27_3144+34dup	XP_005256040.1:n.3144+27_3144+34dup
XM_005255984.4:c.3123+27_3123+34dup	XP_005256041.1:n.3123+27_3123+34dup
XM_017023282.1:c.2031+27_2031+34dup	XP_016878771.1:n.2031+27_2031+34dup
XM_017023283.1:c.1722+27_1722+34dup	XP_016878772.1:n.1722+27_1722+34dup
XM_017023284.1:c.1722+27_1722+34dup	XP_016878773.1:n.1722+27_1722+34dup
XR_001751913.1:n.3068+27_3068+34dup
NM_000293.3:c.3144+27_3144+34dup MANE Select	NP_000284.1:n.3144+27_3144+34dup
NM_001031835.3:c.3123+27_3123+34dup	NP_001027005.1:n.3123+27_3123+34dup