Canonical Allele Identifier: CA2633045814

Gene: PHKB

Linked Data

• gnomAD v4: 16-47596328-A-AGCAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47596328_47596329insGCAAG , CM000678.2:g.47596328_47596329insGCAAG	GRCh38
NC_000016.9:g.47630239_47630240insGCAAG , CM000678.1:g.47630239_47630240insGCAAG	GRCh37
NC_000016.8:g.46187740_46187741insGCAAG	NCBI36
NG_016598.1:g.140030_140031insGCAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.1184-45_1184-44insGCAAG	ENSP00000512887.1:n.1184-45_1184-44insGCAAG
ENST00000699276.1:c.1184-45_1184-44insGCAAG	ENSP00000514257.1:n.1184-45_1184-44insGCAAG
ENST00000323584.10:c.1205-45_1205-44insGCAAG MANE Select	ENSP00000313504.5:n.1205-45_1205-44insGCAAG
ENST00000299167.12:c.1205-45_1205-44insGCAAG	ENSP00000299167.8:n.1205-45_1205-44insGCAAG
ENST00000323584.9:c.1205-45_1205-44insGCAAG	ENSP00000313504.5:n.1205-45_1205-44insGCAAG
ENST00000566044.5:c.1184-45_1184-44insGCAAG	ENSP00000456729.1:n.1184-45_1184-44insGCAAG
ENST00000566436.1:n.66-45_66-44insGCAAG
NM_000293.2:c.1205-45_1205-44insGCAAG	NP_000284.1:n.1205-45_1205-44insGCAAG
NM_001031835.2:c.1184-45_1184-44insGCAAG	NP_001027005.1:n.1184-45_1184-44insGCAAG
XM_005255983.3:c.1205-45_1205-44insGCAAG	XP_005256040.1:n.1205-45_1205-44insGCAAG
XM_005255984.3:c.1184-45_1184-44insGCAAG	XP_005256041.1:n.1184-45_1184-44insGCAAG
XM_011523106.1:c.1205-45_1205-44insGCAAG	XP_011521408.1:n.1205-45_1205-44insGCAAG
NM_001363837.1:c.1205-45_1205-44insGCAAG	NP_001350766.1:n.1205-45_1205-44insGCAAG
XM_005255983.4:c.1205-45_1205-44insGCAAG	XP_005256040.1:n.1205-45_1205-44insGCAAG
XM_005255984.4:c.1184-45_1184-44insGCAAG	XP_005256041.1:n.1184-45_1184-44insGCAAG
XM_017023282.1:c.92-45_92-44insGCAAG	XP_016878771.1:n.92-45_92-44insGCAAG
XM_017023283.1:c.-301-45_-301-44insGCAAG	XP_016878772.1:n.-301-45_-301-44insGCAAG
XM_017023284.1:c.-301-45_-301-44insGCAAG	XP_016878773.1:n.-301-45_-301-44insGCAAG
XR_001751913.1:n.1220-45_1220-44insGCAAG
NM_000293.3:c.1205-45_1205-44insGCAAG MANE Select	NP_000284.1:n.1205-45_1205-44insGCAAG
NM_001031835.3:c.1184-45_1184-44insGCAAG	NP_001027005.1:n.1184-45_1184-44insGCAAG