Canonical Allele Identifier: CA2695231375

Gene: PHKA2 PHKA2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893596_18893597del , CM000685.2:g.18893596_18893597del	GRCh38
NC_000023.10:g.18911714_18911715del , CM000685.1:g.18911714_18911715del	GRCh37
NC_000023.9:g.18821635_18821636del	NCBI36
NG_016622.1:g.95767_95768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3597_3598del (PHKA2) MANE Select	ENSP00000369274.4:p.Phe1200LeufsTer2
ENST00000379942.4:c.3597_3598del (PHKA2)	ENSP00000369274.4:p.Phe1200LeufsTer2
ENST00000469485.5:n.1322_1323del (PHKA2)
ENST00000473597.1:n.366_367del (PHKA2)
ENST00000481718.1:n.2491_2492del (PHKA2)
NM_000292.2:c.3597_3598del (PHKA2)	NP_000283.1:p.Phe1200LeufsTer2
NR_029379.1:n.467+258_467+259del (PHKA2-AS1)
XM_005274548.3:c.3543_3544del (PHKA2)	XP_005274605.1:p.Phe1182LeufsTer2
XM_005274550.3:c.3513_3514del (PHKA2)	XP_005274607.1:p.Phe1172LeufsTer2
XM_006724496.2:c.3621_3622del (PHKA2)	XP_006724559.1:p.Phe1208LeufsTer2
XM_006724498.2:c.3075_3076del (PHKA2)	XP_006724561.1:p.Phe1026LeufsTer2
XM_011545537.1:c.3522_3523del (PHKA2)	XP_011543839.1:p.Phe1175LeufsTer2
XM_011545538.1:c.2604_2605del (PHKA2)	XP_011543840.1:p.Phe869LeufsTer2
XM_005274548.5:c.3543_3544del (PHKA2)	XP_005274605.1:p.Phe1182LeufsTer2
XM_005274550.5:c.3513_3514del (PHKA2)	XP_005274607.1:p.Phe1172LeufsTer2
XM_006724496.4:c.3621_3622del (PHKA2)	XP_006724559.1:p.Phe1208LeufsTer2
XM_006724498.4:c.3075_3076del (PHKA2)	XP_006724561.1:p.Phe1026LeufsTer2
XM_011545537.3:c.3522_3523del (PHKA2)	XP_011543839.1:p.Phe1175LeufsTer2
XM_011545538.3:c.2604_2605del (PHKA2)	XP_011543840.1:p.Phe869LeufsTer2
XM_017029580.2:c.2715_2716del (PHKA2)	XP_016885069.1:p.Phe906LeufsTer2
XR_001755698.2:n.5725_5726del (PHKA2)
NM_000292.3:c.3597_3598del (PHKA2) MANE Select	NP_000283.1:p.Phe1200LeufsTer2