Canonical Allele Identifier: CA658799597

Gene: PHKA2

Linked Data

• ClinVar Variation Id: 501100
• ClinVar RCV Id: RCV000597489 ; RCV001042605
• dbSNP Id: rs1555989523
• MyVariant Identifiers: chrX:g.18915351_18915353del (hg19) ; chrX:g.18897233_18897235del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18897235_18897237del , CM000685.2:g.18897235_18897237del	GRCh38
NC_000023.10:g.18915353_18915355del , CM000685.1:g.18915353_18915355del	GRCh37
NC_000023.9:g.18825274_18825276del	NCBI36
NG_016622.1:g.92128_92130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3210_3212del MANE Select	ENSP00000369274.4:p.Arg1071del
ENST00000379942.4:c.3210_3212del	ENSP00000369274.4:p.Arg1071del
ENST00000469485.5:n.935_937del
ENST00000469645.5:n.610_612del
ENST00000473739.5:n.302_304del
NM_000292.2:c.3210_3212del	NP_000283.1:p.Arg1071del
XM_005274548.3:c.3156_3158del	XP_005274605.1:p.Arg1053del
XM_005274550.3:c.3126_3128del	XP_005274607.1:p.Arg1043del
XM_006724496.2:c.3234_3236del	XP_006724559.1:p.Arg1079del
XM_006724498.2:c.2688_2690del	XP_006724561.1:p.Arg897del
XM_011545537.1:c.3135_3137del	XP_011543839.1:p.Arg1046del
XM_011545538.1:c.2217_2219del	XP_011543840.1:p.Arg740del
XM_005274548.5:c.3156_3158del	XP_005274605.1:p.Arg1053del
XM_005274550.5:c.3126_3128del	XP_005274607.1:p.Arg1043del
XM_006724496.4:c.3234_3236del	XP_006724559.1:p.Arg1079del
XM_006724498.4:c.2688_2690del	XP_006724561.1:p.Arg897del
XM_011545537.3:c.3135_3137del	XP_011543839.1:p.Arg1046del
XM_011545538.3:c.2217_2219del	XP_011543840.1:p.Arg740del
XM_017029580.2:c.2328_2330del	XP_016885069.1:p.Arg777del
XR_001755698.2:n.5338_5340del
XR_002958777.1:n.3415_3417del
NM_000292.3:c.3210_3212del MANE Select	NP_000283.1:p.Arg1071del