Canonical Allele Identifier: CA2436843977

Gene: PHKA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667407_72667414delinsGGATAACT , CM000685.2:g.72667407_72667414delinsGGATAACT	GRCh38
NC_000023.10:g.71887257_71887264delinsGGATAACT , CM000685.1:g.71887257_71887264delinsGGATAACT	GRCh37
NC_000023.9:g.71803982_71803989delinsGGATAACT	NCBI36
NG_016599.1:g.51766_51773delinsAGTTATCC
NG_016599.2:g.51768_51775delinsAGTTATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.678_685delinsAGTTATCC MANE Select	ENSP00000362643.4:p.Ser226=
ENST00000339490.7:c.678_685delinsAGTTATCC	ENSP00000342469.3:p.Ser226=
ENST00000373539.3:c.678_685delinsAGTTATCC	ENSP00000362640.3:p.Ser226=
ENST00000373542.8:c.678_685delinsAGTTATCC	ENSP00000362643.4:p.Ser226=
ENST00000373545.7:c.678_685delinsAGTTATCC	ENSP00000362646.3:p.Ser226=
ENST00000541944.5:c.678_685delinsAGTTATCC	ENSP00000441251.1:p.Ser226=
NM_001122670.1:c.678_685delinsAGTTATCC	NP_001116142.1:p.Ser226=
NM_001172436.1:c.678_685delinsAGTTATCC	NP_001165907.1:p.Ser226=
NM_002637.3:c.678_685delinsAGTTATCC	NP_002628.2:p.Ser226=
XM_006724661.2:c.678_685delinsAGTTATCC	XP_006724724.1:p.Ser226=
XR_001755696.1:n.821_828delinsAGTTATCC
NM_002637.4:c.678_685delinsAGTTATCC MANE Select	NP_002628.2:p.Ser226=
NM_001122670.2:c.678_685delinsAGTTATCC	NP_001116142.1:p.Ser226=
NM_001172436.2:c.678_685delinsAGTTATCC	NP_001165907.1:p.Ser226=