Canonical Allele Identifier: CA331060880

Gene: PHKA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72626774_72626775dup , CM000685.2:g.72626774_72626775dup	GRCh38
NC_000023.10:g.71846624_71846625dup , CM000685.1:g.71846624_71846625dup	GRCh37
NC_000023.9:g.71763349_71763350dup	NCBI36
NG_016599.1:g.92414_92415dup
NG_016599.2:g.92416_92417dup

Transcript Alleles

HGVS	Amino-acid Change
NM_002637.4:c.1793+205_1793+206dup MANE Select	NP_002628.2:n.1793+205_1793+206dup
ENST00000373542.9:c.1793+205_1793+206dup MANE Select	ENSP00000362643.4:n.1793+205_1793+206dup
NM_001122670.1:c.1793+205_1793+206dup	NP_001116142.1:n.1793+205_1793+206dup
NM_001122670.2:c.1793+205_1793+206dup	NP_001116142.1:n.1793+205_1793+206dup
NM_001172436.1:c.1793+205_1793+206dup	NP_001165907.1:n.1793+205_1793+206dup
NM_001172436.2:c.1793+205_1793+206dup	NP_001165907.1:n.1793+205_1793+206dup
NM_002637.3:c.1793+205_1793+206dup	NP_002628.2:n.1793+205_1793+206dup
ENST00000339490.7:c.1793+205_1793+206dup	ENSP00000342469.3:n.1793+205_1793+206dup
ENST00000373539.3:c.1793+205_1793+206dup	ENSP00000362640.3:n.1793+205_1793+206dup
ENST00000373542.8:c.1793+205_1793+206dup	ENSP00000362643.4:n.1793+205_1793+206dup
ENST00000373545.7:c.1793+205_1793+206dup	ENSP00000362646.3:n.1793+205_1793+206dup
ENST00000541944.5:c.1793+205_1793+206dup	ENSP00000441251.1:n.1793+205_1793+206dup
XM_006724661.2:c.1793+205_1793+206dup	XP_006724724.1:n.1793+205_1793+206dup
XR_001755696.1:n.1936+205_1936+206dup