Canonical Allele Identifier: CA2220493611

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698621_47698623delinsTTG , CM000678.2:g.47698621_47698623delinsTTG	GRCh38
NC_000016.9:g.47732532_47732534delinsTTG , CM000678.1:g.47732532_47732534delinsTTG	GRCh37
NC_000016.8:g.46290033_46290035delinsTTG	NCBI36
NG_016598.1:g.242323_242325delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+33_*1718+35delinsTTG	ENSP00000512887.1:n.*1718+33_*1718+35delinsTTG
ENST00000699276.1:c.*772+33_*772+35delinsTTG	ENSP00000514257.1:n.*772+33_*772+35delinsTTG
ENST00000323584.10:c.3144+33_3144+35delinsTTG MANE Select	ENSP00000313504.5:n.3144+33_3144+35delinsTTG
ENST00000299167.12:c.3144+33_3144+35delinsTTG	ENSP00000299167.8:n.3144+33_3144+35delinsTTG
ENST00000323584.9:c.3144+33_3144+35delinsTTG	ENSP00000313504.5:n.3144+33_3144+35delinsTTG
ENST00000564711.2:c.158+33_158+35delinsTTG
ENST00000566044.5:c.3123+33_3123+35delinsTTG	ENSP00000456729.1:n.3123+33_3123+35delinsTTG
ENST00000566319.2:n.1960+33_1960+35delinsTTG
NM_000293.2:c.3144+33_3144+35delinsTTG	NP_000284.1:n.3144+33_3144+35delinsTTG
NM_001031835.2:c.3123+33_3123+35delinsTTG	NP_001027005.1:n.3123+33_3123+35delinsTTG
XM_005255983.3:c.3144+33_3144+35delinsTTG	XP_005256040.1:n.3144+33_3144+35delinsTTG
XM_005255984.3:c.3123+33_3123+35delinsTTG	XP_005256041.1:n.3123+33_3123+35delinsTTG
XM_011523107.1:c.1722+33_1722+35delinsTTG	XP_011521409.1:n.1722+33_1722+35delinsTTG
NM_001363837.1:c.3144+33_3144+35delinsTTG	NP_001350766.1:n.3144+33_3144+35delinsTTG
XM_005255983.4:c.3144+33_3144+35delinsTTG	XP_005256040.1:n.3144+33_3144+35delinsTTG
XM_005255984.4:c.3123+33_3123+35delinsTTG	XP_005256041.1:n.3123+33_3123+35delinsTTG
XM_017023282.1:c.2031+33_2031+35delinsTTG	XP_016878771.1:n.2031+33_2031+35delinsTTG
XM_017023283.1:c.1722+33_1722+35delinsTTG	XP_016878772.1:n.1722+33_1722+35delinsTTG
XM_017023284.1:c.1722+33_1722+35delinsTTG	XP_016878773.1:n.1722+33_1722+35delinsTTG
XR_001751913.1:n.3068+33_3068+35delinsTTG
NM_000293.3:c.3144+33_3144+35delinsTTG MANE Select	NP_000284.1:n.3144+33_3144+35delinsTTG
NM_001031835.3:c.3123+33_3123+35delinsTTG	NP_001027005.1:n.3123+33_3123+35delinsTTG