Canonical Allele Identifier: CA2555892809
Gene: PHKA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18951074_18951076del , CM000685.2:g.18951074_18951076del GRCh38
NC_000023.10:g.18969192_18969194del , CM000685.1:g.18969192_18969194del GRCh37
NC_000023.9:g.18879113_18879115del NCBI36
NG_016622.1:g.38287_38289del

Transcript Alleles

HGVS Amino-acid change
ENST00000379942.5:c.454+28_454+30del MANE Select ENSP00000369274.4:n.454+28_454+30del
ENST00000379942.4:c.454+28_454+30del ENSP00000369274.4:n.454+28_454+30del
NM_000292.2:c.454+28_454+30del NP_000283.1:n.454+28_454+30del
XM_005274548.3:c.454+28_454+30del XP_005274605.1:n.454+28_454+30del
XM_005274550.3:c.454+28_454+30del XP_005274607.1:n.454+28_454+30del
XM_006724496.2:c.454+28_454+30del XP_006724559.1:n.454+28_454+30del
XM_006724498.2:c.-93+1418_-93+1420del XP_006724561.1:n.-93+1418_-93+1420del
XM_011545537.1:c.454+28_454+30del XP_011543839.1:n.454+28_454+30del
XR_950461.1:n.638+28_638+30del
XM_005274548.5:c.454+28_454+30del XP_005274605.1:n.454+28_454+30del
XM_005274550.5:c.454+28_454+30del XP_005274607.1:n.454+28_454+30del
XM_006724496.4:c.454+28_454+30del XP_006724559.1:n.454+28_454+30del
XM_006724498.4:c.-93+1418_-93+1420del XP_006724561.1:n.-93+1418_-93+1420del
XM_011545537.3:c.454+28_454+30del XP_011543839.1:n.454+28_454+30del
XM_017029580.2:c.-388+28_-388+30del XP_016885069.1:n.-388+28_-388+30del
XR_001755697.2:n.624+28_624+30del
XR_001755698.2:n.624+28_624+30del
XR_002958777.1:n.624+28_624+30del
XR_950461.3:n.624+28_624+30del
NM_000292.3:c.454+28_454+30del MANE Select NP_000283.1:n.454+28_454+30del