Canonical Allele Identifier: CA2633050289

Gene: PHKB

Linked Data

• gnomAD v4: 16-47698629-T-TTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698631_47698632insATT , CM000678.2:g.47698631_47698632insATT	GRCh38
NC_000016.9:g.47732542_47732543insATT , CM000678.1:g.47732542_47732543insATT	GRCh37
NC_000016.8:g.46290043_46290044insATT	NCBI36
NG_016598.1:g.242333_242334insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+43_*1718+44insATT	ENSP00000512887.1:n.*1718+43_*1718+44insATT
ENST00000699276.1:c.*772+43_*772+44insATT	ENSP00000514257.1:n.*772+43_*772+44insATT
ENST00000323584.10:c.3144+43_3144+44insATT MANE Select	ENSP00000313504.5:n.3144+43_3144+44insATT
ENST00000299167.12:c.3144+43_3144+44insATT	ENSP00000299167.8:n.3144+43_3144+44insATT
ENST00000323584.9:c.3144+43_3144+44insATT	ENSP00000313504.5:n.3144+43_3144+44insATT
ENST00000564711.2:c.158+43_158+44insATT
ENST00000566044.5:c.3123+43_3123+44insATT	ENSP00000456729.1:n.3123+43_3123+44insATT
ENST00000566319.2:n.1960+43_1960+44insATT
NM_000293.2:c.3144+43_3144+44insATT	NP_000284.1:n.3144+43_3144+44insATT
NM_001031835.2:c.3123+43_3123+44insATT	NP_001027005.1:n.3123+43_3123+44insATT
XM_005255983.3:c.3144+43_3144+44insATT	XP_005256040.1:n.3144+43_3144+44insATT
XM_005255984.3:c.3123+43_3123+44insATT	XP_005256041.1:n.3123+43_3123+44insATT
XM_011523107.1:c.1722+43_1722+44insATT	XP_011521409.1:n.1722+43_1722+44insATT
NM_001363837.1:c.3144+43_3144+44insATT	NP_001350766.1:n.3144+43_3144+44insATT
XM_005255983.4:c.3144+43_3144+44insATT	XP_005256040.1:n.3144+43_3144+44insATT
XM_005255984.4:c.3123+43_3123+44insATT	XP_005256041.1:n.3123+43_3123+44insATT
XM_017023282.1:c.2031+43_2031+44insATT	XP_016878771.1:n.2031+43_2031+44insATT
XM_017023283.1:c.1722+43_1722+44insATT	XP_016878772.1:n.1722+43_1722+44insATT
XM_017023284.1:c.1722+43_1722+44insATT	XP_016878773.1:n.1722+43_1722+44insATT
XR_001751913.1:n.3068+43_3068+44insATT
NM_000293.3:c.3144+43_3144+44insATT MANE Select	NP_000284.1:n.3144+43_3144+44insATT
NM_001031835.3:c.3123+43_3123+44insATT	NP_001027005.1:n.3123+43_3123+44insATT