Canonical Allele Identifier: CA2741483897

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698625_47698626insTTTTT , CM000678.2:g.47698625_47698626insTTTTT	GRCh38
NC_000016.9:g.47732536_47732537insTTTTT , CM000678.1:g.47732536_47732537insTTTTT	GRCh37
NC_000016.8:g.46290037_46290038insTTTTT	NCBI36
NG_016598.1:g.242327_242328insTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+37_*1718+38insTTTTT	ENSP00000512887.1:n.*1718+37_*1718+38insTTTTT
ENST00000699276.1:c.*772+37_*772+38insTTTTT	ENSP00000514257.1:n.*772+37_*772+38insTTTTT
ENST00000323584.10:c.3144+37_3144+38insTTTTT MANE Select	ENSP00000313504.5:n.3144+37_3144+38insTTTTT
ENST00000299167.12:c.3144+37_3144+38insTTTTT	ENSP00000299167.8:n.3144+37_3144+38insTTTTT
ENST00000323584.9:c.3144+37_3144+38insTTTTT	ENSP00000313504.5:n.3144+37_3144+38insTTTTT
ENST00000564711.2:c.158+37_158+38insTTTTT
ENST00000566044.5:c.3123+37_3123+38insTTTTT	ENSP00000456729.1:n.3123+37_3123+38insTTTTT
ENST00000566319.2:n.1960+37_1960+38insTTTTT
NM_000293.2:c.3144+37_3144+38insTTTTT	NP_000284.1:n.3144+37_3144+38insTTTTT
NM_001031835.2:c.3123+37_3123+38insTTTTT	NP_001027005.1:n.3123+37_3123+38insTTTTT
XM_005255983.3:c.3144+37_3144+38insTTTTT	XP_005256040.1:n.3144+37_3144+38insTTTTT
XM_005255984.3:c.3123+37_3123+38insTTTTT	XP_005256041.1:n.3123+37_3123+38insTTTTT
XM_011523107.1:c.1722+37_1722+38insTTTTT	XP_011521409.1:n.1722+37_1722+38insTTTTT
NM_001363837.1:c.3144+37_3144+38insTTTTT	NP_001350766.1:n.3144+37_3144+38insTTTTT
XM_005255983.4:c.3144+37_3144+38insTTTTT	XP_005256040.1:n.3144+37_3144+38insTTTTT
XM_005255984.4:c.3123+37_3123+38insTTTTT	XP_005256041.1:n.3123+37_3123+38insTTTTT
XM_017023282.1:c.2031+37_2031+38insTTTTT	XP_016878771.1:n.2031+37_2031+38insTTTTT
XM_017023283.1:c.1722+37_1722+38insTTTTT	XP_016878772.1:n.1722+37_1722+38insTTTTT
XM_017023284.1:c.1722+37_1722+38insTTTTT	XP_016878773.1:n.1722+37_1722+38insTTTTT
XR_001751913.1:n.3068+37_3068+38insTTTTT
NM_000293.3:c.3144+37_3144+38insTTTTT MANE Select	NP_000284.1:n.3144+37_3144+38insTTTTT
NM_001031835.3:c.3123+37_3123+38insTTTTT	NP_001027005.1:n.3123+37_3123+38insTTTTT