Canonical Allele Identifier: CA10646368

Gene: PHKA1

Linked Data

• ClinVar Variation Id: 368633
• ClinVar RCV Id: RCV000276452
• dbSNP Id: rs111688568
• gnomAD v2: X-71799587-T-TAC
• gnomAD v3: X-72579737-T-TAC
• gnomAD v4: X-72579737-T-TAC
• MyVariant Identifiers: chrX:g.71799588_71799589dupAC (hg19) ; chrX:g.71799597_71799598insAC (hg19) ; chrX:g.71799587_71799588insAC (hg19) ; chrX:g.72579738_72579739dupAC (hg38) ; chrX:g.72579747_72579748insAC (hg38) ; chrX:g.72579737_72579738insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72579761_72579762dup , CM000685.2:g.72579761_72579762dup	GRCh38
NC_000023.10:g.71799611_71799612dup , CM000685.1:g.71799611_71799612dup	GRCh37
NC_000023.9:g.71716336_71716337dup	NCBI36
NG_016599.1:g.139441_139442dup
NG_016599.2:g.139443_139444dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000373542.9:c.*1263_*1264dup MANE Select	ENSP00000362643.4:n.*1263_*1264dup
ENST00000339490.7:c.*1263_*1264dup	ENSP00000342469.3:n.*1263_*1264dup
ENST00000373542.8:c.*1263_*1264dup	ENSP00000362643.4:n.*1263_*1264dup
ENST00000373545.7:c.*1263_*1264dup	ENSP00000362646.3:n.*1263_*1264dup
ENST00000541944.5:c.*1263_*1264dup	ENSP00000441251.1:n.*1263_*1264dup
NM_001122670.1:c.*1263_*1264dup	NP_001116142.1:n.*1263_*1264dup
NM_001172436.1:c.*1263_*1264dup	NP_001165907.1:n.*1263_*1264dup
NM_002637.3:c.*1263_*1264dup	NP_002628.2:n.*1263_*1264dup
XM_006724661.2:c.*1263_*1264dup	XP_006724724.1:n.*1263_*1264dup
XR_001755696.1:n.5865_5866dup
NM_002637.4:c.*1263_*1264dup MANE Select	NP_002628.2:n.*1263_*1264dup
NM_001122670.2:c.*1263_*1264dup	NP_001116142.1:n.*1263_*1264dup
NM_001172436.2:c.*1263_*1264dup	NP_001165907.1:n.*1263_*1264dup