Canonical Allele Identifier: CA2594981291

Gene: PHKB

Linked Data

• gnomAD v3: 16-47698626-A-ATTTTTTT
• gnomAD v4: 16-47698626-A-ATTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698626_47698627insTTTTTTT , CM000678.2:g.47698626_47698627insTTTTTTT	GRCh38
NC_000016.9:g.47732537_47732538insTTTTTTT , CM000678.1:g.47732537_47732538insTTTTTTT	GRCh37
NC_000016.8:g.46290038_46290039insTTTTTTT	NCBI36
NG_016598.1:g.242328_242329insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+38_*1718+39insTTTTTTT	ENSP00000512887.1:n.*1718+38_*1718+39insTTTTTTT
ENST00000699276.1:c.*772+38_*772+39insTTTTTTT	ENSP00000514257.1:n.*772+38_*772+39insTTTTTTT
ENST00000323584.10:c.3144+38_3144+39insTTTTTTT MANE Select	ENSP00000313504.5:n.3144+38_3144+39insTTTTTTT
ENST00000299167.12:c.3144+38_3144+39insTTTTTTT	ENSP00000299167.8:n.3144+38_3144+39insTTTTTTT
ENST00000323584.9:c.3144+38_3144+39insTTTTTTT	ENSP00000313504.5:n.3144+38_3144+39insTTTTTTT
ENST00000564711.2:c.158+38_158+39insTTTTTTT
ENST00000566044.5:c.3123+38_3123+39insTTTTTTT	ENSP00000456729.1:n.3123+38_3123+39insTTTTTTT
ENST00000566319.2:n.1960+38_1960+39insTTTTTTT
NM_000293.2:c.3144+38_3144+39insTTTTTTT	NP_000284.1:n.3144+38_3144+39insTTTTTTT
NM_001031835.2:c.3123+38_3123+39insTTTTTTT	NP_001027005.1:n.3123+38_3123+39insTTTTTTT
XM_005255983.3:c.3144+38_3144+39insTTTTTTT	XP_005256040.1:n.3144+38_3144+39insTTTTTTT
XM_005255984.3:c.3123+38_3123+39insTTTTTTT	XP_005256041.1:n.3123+38_3123+39insTTTTTTT
XM_011523107.1:c.1722+38_1722+39insTTTTTTT	XP_011521409.1:n.1722+38_1722+39insTTTTTTT
NM_001363837.1:c.3144+38_3144+39insTTTTTTT	NP_001350766.1:n.3144+38_3144+39insTTTTTTT
XM_005255983.4:c.3144+38_3144+39insTTTTTTT	XP_005256040.1:n.3144+38_3144+39insTTTTTTT
XM_005255984.4:c.3123+38_3123+39insTTTTTTT	XP_005256041.1:n.3123+38_3123+39insTTTTTTT
XM_017023282.1:c.2031+38_2031+39insTTTTTTT	XP_016878771.1:n.2031+38_2031+39insTTTTTTT
XM_017023283.1:c.1722+38_1722+39insTTTTTTT	XP_016878772.1:n.1722+38_1722+39insTTTTTTT
XM_017023284.1:c.1722+38_1722+39insTTTTTTT	XP_016878773.1:n.1722+38_1722+39insTTTTTTT
XR_001751913.1:n.3068+38_3068+39insTTTTTTT
NM_000293.3:c.3144+38_3144+39insTTTTTTT MANE Select	NP_000284.1:n.3144+38_3144+39insTTTTTTT
NM_001031835.3:c.3123+38_3123+39insTTTTTTT	NP_001027005.1:n.3123+38_3123+39insTTTTTTT