Canonical Allele Identifier: CA2839890457

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47650772_47650774del , CM000678.2:g.47650772_47650774del	GRCh38
NC_000016.9:g.47684683_47684685del , CM000678.1:g.47684683_47684685del	GRCh37
NC_000016.8:g.46242184_46242186del	NCBI36
NG_016598.1:g.194474_194476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*455-59_*455-57del	ENSP00000512887.1:n.*455-59_*455-57del
ENST00000699276.1:c.1860-59_1860-57del	ENSP00000514257.1:n.1860-59_1860-57del
ENST00000323584.10:c.1881-59_1881-57del MANE Select	ENSP00000313504.5:n.1881-59_1881-57del
ENST00000299167.12:c.1881-59_1881-57del	ENSP00000299167.8:n.1881-59_1881-57del
ENST00000323584.9:c.1881-59_1881-57del	ENSP00000313504.5:n.1881-59_1881-57del
ENST00000566044.5:c.1860-59_1860-57del	ENSP00000456729.1:n.1860-59_1860-57del
NM_000293.2:c.1881-59_1881-57del	NP_000284.1:n.1881-59_1881-57del
NM_001031835.2:c.1860-59_1860-57del	NP_001027005.1:n.1860-59_1860-57del
XM_005255983.3:c.1881-59_1881-57del	XP_005256040.1:n.1881-59_1881-57del
XM_005255984.3:c.1860-59_1860-57del	XP_005256041.1:n.1860-59_1860-57del
XM_011523106.1:c.1881-59_1881-57del	XP_011521408.1:n.1881-59_1881-57del
XM_011523107.1:c.459-59_459-57del	XP_011521409.1:n.459-59_459-57del
NM_001363837.1:c.1881-59_1881-57del	NP_001350766.1:n.1881-59_1881-57del
XM_005255983.4:c.1881-59_1881-57del	XP_005256040.1:n.1881-59_1881-57del
XM_005255984.4:c.1860-59_1860-57del	XP_005256041.1:n.1860-59_1860-57del
XM_017023282.1:c.768-59_768-57del	XP_016878771.1:n.768-59_768-57del
XM_017023283.1:c.459-59_459-57del	XP_016878772.1:n.459-59_459-57del
XM_017023284.1:c.459-59_459-57del	XP_016878773.1:n.459-59_459-57del
XR_001751913.1:n.1896-59_1896-57del
NM_000293.3:c.1881-59_1881-57del MANE Select	NP_000284.1:n.1881-59_1881-57del
NM_001031835.3:c.1860-59_1860-57del	NP_001027005.1:n.1860-59_1860-57del