Canonical Allele Identifier: CA331064697

Gene: PHKA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72581242del , CM000685.2:g.72581242del	GRCh38
NC_000023.10:g.71801092del , CM000685.1:g.71801092del	GRCh37
NC_000023.9:g.71717817del	NCBI36
NG_016599.1:g.137938del
NG_016599.2:g.137940del

Transcript Alleles

HGVS	Amino-acid Change
NM_002637.4:c.3499-67del MANE Select	NP_002628.2:n.3499-67del
ENST00000373542.9:c.3499-67del MANE Select	ENSP00000362643.4:n.3499-67del
NM_001122670.1:c.3460-67del	NP_001116142.1:n.3460-67del
NM_001122670.2:c.3460-67del	NP_001116142.1:n.3460-67del
NM_001172436.1:c.3283-67del	NP_001165907.1:n.3283-67del
NM_001172436.2:c.3283-67del	NP_001165907.1:n.3283-67del
NM_002637.3:c.3499-67del	NP_002628.2:n.3499-67del
ENST00000339490.7:c.3460-67del	ENSP00000342469.3:n.3460-67del
ENST00000373539.3:c.3550-67del	ENSP00000362640.3:n.3550-67del
ENST00000373542.8:c.3499-67del	ENSP00000362643.4:n.3499-67del
ENST00000373545.7:c.3373-67del	ENSP00000362646.3:n.3373-67del
ENST00000541944.5:c.3283-67del	ENSP00000441251.1:n.3283-67del
XM_006724661.2:c.3322-67del	XP_006724724.1:n.3322-67del
XR_001755696.1:n.4429-67del