Canonical Allele Identifier: CA2575984643

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698580_47698590del , CM000678.2:g.47698580_47698590del	GRCh38
NC_000016.9:g.47732491_47732501del , CM000678.1:g.47732491_47732501del	GRCh37
NC_000016.8:g.46289992_46290002del	NCBI36
NG_016598.1:g.242282_242292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1710_*1718+2del
ENST00000699276.1:c.*764_*772+2del
ENST00000323584.10:c.3136_3144+2del
ENST00000299167.12:c.3136_3144+2del
ENST00000323584.9:c.3136_3144+2del
ENST00000564711.2:c.150_158+2del
ENST00000566044.5:c.3115_3123+2del
ENST00000566319.2:n.1952_1960+2del
NM_000293.2:c.3136_3144+2del
NM_001031835.2:c.3115_3123+2del
XM_005255983.3:c.3136_3144+2del
XM_005255984.3:c.3115_3123+2del
XM_011523107.1:c.1714_1722+2del
NM_001363837.1:c.3136_3144+2del
XM_005255983.4:c.3136_3144+2del
XM_005255984.4:c.3115_3123+2del
XM_017023282.1:c.2023_2031+2del
XM_017023283.1:c.1714_1722+2del
XM_017023284.1:c.1714_1722+2del
XR_001751913.1:n.3060_3068+2del
NM_000293.3:c.3136_3144+2del
NM_001031835.3:c.3115_3123+2del