Canonical Allele Identifier: CA977063382

Gene: PHKB

Linked Data

• gnomAD v3: 16-47698635-A-ATTTTTTT
• gnomAD v4: 16-47698635-A-ATTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698637_47698638insTTTTTTT , CM000678.2:g.47698637_47698638insTTTTTTT	GRCh38
NC_000016.9:g.47732548_47732549insTTTTTTT , CM000678.1:g.47732548_47732549insTTTTTTT	GRCh37
NC_000016.8:g.46290049_46290050insTTTTTTT	NCBI36
NG_016598.1:g.242339_242340insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+49_*1718+50insTTTTTTT	ENSP00000512887.1:n.*1718+49_*1718+50insTTTTTTT
ENST00000699276.1:c.*772+49_*772+50insTTTTTTT	ENSP00000514257.1:n.*772+49_*772+50insTTTTTTT
ENST00000323584.10:c.3144+49_3144+50insTTTTTTT MANE Select	ENSP00000313504.5:n.3144+49_3144+50insTTTTTTT
ENST00000299167.12:c.3144+49_3144+50insTTTTTTT	ENSP00000299167.8:n.3144+49_3144+50insTTTTTTT
ENST00000323584.9:c.3144+49_3144+50insTTTTTTT	ENSP00000313504.5:n.3144+49_3144+50insTTTTTTT
ENST00000564711.2:c.158+49_158+50insTTTTTTT
ENST00000566044.5:c.3123+49_3123+50insTTTTTTT	ENSP00000456729.1:n.3123+49_3123+50insTTTTTTT
ENST00000566319.2:n.1960+49_1960+50insTTTTTTT
NM_000293.2:c.3144+49_3144+50insTTTTTTT	NP_000284.1:n.3144+49_3144+50insTTTTTTT
NM_001031835.2:c.3123+49_3123+50insTTTTTTT	NP_001027005.1:n.3123+49_3123+50insTTTTTTT
XM_005255983.3:c.3144+49_3144+50insTTTTTTT	XP_005256040.1:n.3144+49_3144+50insTTTTTTT
XM_005255984.3:c.3123+49_3123+50insTTTTTTT	XP_005256041.1:n.3123+49_3123+50insTTTTTTT
XM_011523107.1:c.1722+49_1722+50insTTTTTTT	XP_011521409.1:n.1722+49_1722+50insTTTTTTT
NM_001363837.1:c.3144+49_3144+50insTTTTTTT	NP_001350766.1:n.3144+49_3144+50insTTTTTTT
XM_005255983.4:c.3144+49_3144+50insTTTTTTT	XP_005256040.1:n.3144+49_3144+50insTTTTTTT
XM_005255984.4:c.3123+49_3123+50insTTTTTTT	XP_005256041.1:n.3123+49_3123+50insTTTTTTT
XM_017023282.1:c.2031+49_2031+50insTTTTTTT	XP_016878771.1:n.2031+49_2031+50insTTTTTTT
XM_017023283.1:c.1722+49_1722+50insTTTTTTT	XP_016878772.1:n.1722+49_1722+50insTTTTTTT
XM_017023284.1:c.1722+49_1722+50insTTTTTTT	XP_016878773.1:n.1722+49_1722+50insTTTTTTT
XR_001751913.1:n.3068+49_3068+50insTTTTTTT
NM_000293.3:c.3144+49_3144+50insTTTTTTT MANE Select	NP_000284.1:n.3144+49_3144+50insTTTTTTT
NM_001031835.3:c.3123+49_3123+50insTTTTTTT	NP_001027005.1:n.3123+49_3123+50insTTTTTTT