Canonical Allele Identifier: CA2697552865

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18945114del , CM000685.2:g.18945114del	GRCh38
NC_000023.10:g.18963232del , CM000685.1:g.18963232del	GRCh37
NC_000023.9:g.18873153del	NCBI36
NG_016622.1:g.44251del

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.584del MANE Select	NP_000283.1:p.Pro195ArgfsTer3
ENST00000379942.5:c.584del MANE Select	ENSP00000369274.4:p.Pro195ArgfsTer3
NM_000292.2:c.584del	NP_000283.1:p.Pro195ArgfsTer3
ENST00000379942.4:c.584del	ENSP00000369274.4:p.Pro195ArgfsTer3
XM_005274548.3:c.584del	XP_005274605.1:p.Pro195ArgfsTer3
XM_005274548.5:c.584del	XP_005274605.1:p.Pro195ArgfsTer3
XM_005274550.3:c.584del	XP_005274607.1:p.Pro195ArgfsTer3
XM_005274550.5:c.584del	XP_005274607.1:p.Pro195ArgfsTer3
XM_006724496.2:c.584del	XP_006724559.1:p.Pro195ArgfsTer3
XM_006724496.4:c.584del	XP_006724559.1:p.Pro195ArgfsTer3
XM_006724498.2:c.38del	XP_006724561.1:p.Pro13ArgfsTer3
XM_006724498.4:c.38del	XP_006724561.1:p.Pro13ArgfsTer3
XM_011545537.1:c.584del	XP_011543839.1:p.Pro195ArgfsTer3
XM_011545537.3:c.584del	XP_011543839.1:p.Pro195ArgfsTer3
XM_017029580.2:c.-258del	XP_016885069.1:n.-258del
XR_001755697.2:n.754del
XR_001755698.2:n.754del
XR_002958777.1:n.754del
XR_950461.1:n.768del
XR_950461.3:n.754del