Canonical Allele Identifier: CA2697552864

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18925735del , CM000685.2:g.18925735del	GRCh38
NC_000023.10:g.18943853del , CM000685.1:g.18943853del	GRCh37
NC_000023.9:g.18853774del	NCBI36
NG_016622.1:g.63628del

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.1502del MANE Select	NP_000283.1:p.His501LeufsTer12
ENST00000379942.5:c.1502del MANE Select	ENSP00000369274.4:p.His501LeufsTer12
NM_000292.2:c.1502del	NP_000283.1:p.His501LeufsTer12
ENST00000379942.4:c.1502del	ENSP00000369274.4:p.His501LeufsTer12
ENST00000464455.1:n.71del
XM_005274548.3:c.1502del	XP_005274605.1:p.His501LeufsTer12
XM_005274548.5:c.1502del	XP_005274605.1:p.His501LeufsTer12
XM_005274550.3:c.1502del	XP_005274607.1:p.His501LeufsTer12
XM_005274550.5:c.1502del	XP_005274607.1:p.His501LeufsTer12
XM_006724496.2:c.1502del	XP_006724559.1:p.His501LeufsTer12
XM_006724496.4:c.1502del	XP_006724559.1:p.His501LeufsTer12
XM_006724498.2:c.956del	XP_006724561.1:p.His319LeufsTer12
XM_006724498.4:c.956del	XP_006724561.1:p.His319LeufsTer12
XM_011545537.1:c.1403del	XP_011543839.1:p.His468LeufsTer12
XM_011545537.3:c.1403del	XP_011543839.1:p.His468LeufsTer12
XM_011545538.1:c.485del	XP_011543840.1:p.His162LeufsTer12
XM_011545538.3:c.485del	XP_011543840.1:p.His162LeufsTer12
XM_017029580.2:c.596del	XP_016885069.1:p.His199LeufsTer12
XR_001755697.2:n.1672del
XR_001755698.2:n.1672del
XR_002958777.1:n.1672del
XR_950461.1:n.1686del
XR_950461.3:n.1672del