Canonical Allele Identifier: CA2579564414

Gene: PHKA2 PHKA2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893620del , CM000685.2:g.18893620del	GRCh38
NC_000023.10:g.18911738del , CM000685.1:g.18911738del	GRCh37
NC_000023.9:g.18821659del	NCBI36
NG_016622.1:g.95744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3574del (PHKA2) MANE Select	ENSP00000369274.4:p.Gln1192LysfsTer21
ENST00000379942.4:c.3574del (PHKA2)	ENSP00000369274.4:p.Gln1192LysfsTer21
ENST00000469485.5:n.1299del (PHKA2)
ENST00000473597.1:n.343del (PHKA2)
ENST00000481718.1:n.2468del (PHKA2)
NM_000292.2:c.3574del (PHKA2)	NP_000283.1:p.Gln1192LysfsTer21
NR_029379.1:n.467+282del (PHKA2-AS1)
XM_005274548.3:c.3520del (PHKA2)	XP_005274605.1:p.Gln1174LysfsTer21
XM_005274550.3:c.3490del (PHKA2)	XP_005274607.1:p.Gln1164LysfsTer21
XM_006724496.2:c.3598del (PHKA2)	XP_006724559.1:p.Gln1200LysfsTer21
XM_006724498.2:c.3052del (PHKA2)	XP_006724561.1:p.Gln1018LysfsTer21
XM_011545537.1:c.3499del (PHKA2)	XP_011543839.1:p.Gln1167LysfsTer21
XM_011545538.1:c.2581del (PHKA2)	XP_011543840.1:p.Gln861LysfsTer21
XM_005274548.5:c.3520del (PHKA2)	XP_005274605.1:p.Gln1174LysfsTer21
XM_005274550.5:c.3490del (PHKA2)	XP_005274607.1:p.Gln1164LysfsTer21
XM_006724496.4:c.3598del (PHKA2)	XP_006724559.1:p.Gln1200LysfsTer21
XM_006724498.4:c.3052del (PHKA2)	XP_006724561.1:p.Gln1018LysfsTer21
XM_011545537.3:c.3499del (PHKA2)	XP_011543839.1:p.Gln1167LysfsTer21
XM_011545538.3:c.2581del (PHKA2)	XP_011543840.1:p.Gln861LysfsTer21
XM_017029580.2:c.2692del (PHKA2)	XP_016885069.1:p.Gln898LysfsTer21
XR_001755698.2:n.5702del (PHKA2)
NM_000292.3:c.3574del (PHKA2) MANE Select	NP_000283.1:p.Gln1192LysfsTer21