Canonical Allele Identifier: CA977063144

Gene: PHKB

Linked Data

• dbSNP Id: rs1974194953
• gnomAD v3: 16-47698614-T-TTTTC
• gnomAD v4: 16-47698614-T-TTTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698617_47698618insCTTT , CM000678.2:g.47698617_47698618insCTTT	GRCh38
NC_000016.9:g.47732528_47732529insCTTT , CM000678.1:g.47732528_47732529insCTTT	GRCh37
NC_000016.8:g.46290029_46290030insCTTT	NCBI36
NG_016598.1:g.242319_242320insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+29_*1718+30insCTTT	ENSP00000512887.1:n.*1718+29_*1718+30insCTTT
ENST00000699276.1:c.*772+29_*772+30insCTTT	ENSP00000514257.1:n.*772+29_*772+30insCTTT
ENST00000323584.10:c.3144+29_3144+30insCTTT MANE Select	ENSP00000313504.5:n.3144+29_3144+30insCTTT
ENST00000299167.12:c.3144+29_3144+30insCTTT	ENSP00000299167.8:n.3144+29_3144+30insCTTT
ENST00000323584.9:c.3144+29_3144+30insCTTT	ENSP00000313504.5:n.3144+29_3144+30insCTTT
ENST00000564711.2:c.158+29_158+30insCTTT
ENST00000566044.5:c.3123+29_3123+30insCTTT	ENSP00000456729.1:n.3123+29_3123+30insCTTT
ENST00000566319.2:n.1960+29_1960+30insCTTT
NM_000293.2:c.3144+29_3144+30insCTTT	NP_000284.1:n.3144+29_3144+30insCTTT
NM_001031835.2:c.3123+29_3123+30insCTTT	NP_001027005.1:n.3123+29_3123+30insCTTT
XM_005255983.3:c.3144+29_3144+30insCTTT	XP_005256040.1:n.3144+29_3144+30insCTTT
XM_005255984.3:c.3123+29_3123+30insCTTT	XP_005256041.1:n.3123+29_3123+30insCTTT
XM_011523107.1:c.1722+29_1722+30insCTTT	XP_011521409.1:n.1722+29_1722+30insCTTT
NM_001363837.1:c.3144+29_3144+30insCTTT	NP_001350766.1:n.3144+29_3144+30insCTTT
XM_005255983.4:c.3144+29_3144+30insCTTT	XP_005256040.1:n.3144+29_3144+30insCTTT
XM_005255984.4:c.3123+29_3123+30insCTTT	XP_005256041.1:n.3123+29_3123+30insCTTT
XM_017023282.1:c.2031+29_2031+30insCTTT	XP_016878771.1:n.2031+29_2031+30insCTTT
XM_017023283.1:c.1722+29_1722+30insCTTT	XP_016878772.1:n.1722+29_1722+30insCTTT
XM_017023284.1:c.1722+29_1722+30insCTTT	XP_016878773.1:n.1722+29_1722+30insCTTT
XR_001751913.1:n.3068+29_3068+30insCTTT
NM_000293.3:c.3144+29_3144+30insCTTT MANE Select	NP_000284.1:n.3144+29_3144+30insCTTT
NM_001031835.3:c.3123+29_3123+30insCTTT	NP_001027005.1:n.3123+29_3123+30insCTTT