Canonical Allele Identifier: CA2579565101

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951099_18951101del , CM000685.2:g.18951099_18951101del	GRCh38
NC_000023.10:g.18969217_18969219del , CM000685.1:g.18969217_18969219del	GRCh37
NC_000023.9:g.18879138_18879140del	NCBI36
NG_016622.1:g.38262_38264del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.454+3_454+5del MANE Select	ENSP00000369274.4:n.454+3_454+5del
ENST00000379942.4:c.454+3_454+5del	ENSP00000369274.4:n.454+3_454+5del
NM_000292.2:c.454+3_454+5del	NP_000283.1:n.454+3_454+5del
XM_005274548.3:c.454+3_454+5del	XP_005274605.1:n.454+3_454+5del
XM_005274550.3:c.454+3_454+5del	XP_005274607.1:n.454+3_454+5del
XM_006724496.2:c.454+3_454+5del	XP_006724559.1:n.454+3_454+5del
XM_006724498.2:c.-93+1393_-93+1395del	XP_006724561.1:n.-93+1393_-93+1395del
XM_011545537.1:c.454+3_454+5del	XP_011543839.1:n.454+3_454+5del
XR_950461.1:n.638+3_638+5del
XM_005274548.5:c.454+3_454+5del	XP_005274605.1:n.454+3_454+5del
XM_005274550.5:c.454+3_454+5del	XP_005274607.1:n.454+3_454+5del
XM_006724496.4:c.454+3_454+5del	XP_006724559.1:n.454+3_454+5del
XM_006724498.4:c.-93+1393_-93+1395del	XP_006724561.1:n.-93+1393_-93+1395del
XM_011545537.3:c.454+3_454+5del	XP_011543839.1:n.454+3_454+5del
XM_017029580.2:c.-388+3_-388+5del	XP_016885069.1:n.-388+3_-388+5del
XR_001755697.2:n.624+3_624+5del
XR_001755698.2:n.624+3_624+5del
XR_002958777.1:n.624+3_624+5del
XR_950461.3:n.624+3_624+5del
NM_000292.3:c.454+3_454+5del MANE Select	NP_000283.1:n.454+3_454+5del