Canonical Allele Identifier: CA877914981

Gene: PHKA1

Linked Data

• dbSNP Id: rs1326873884
• gnomAD v4: X-72667293-TATCCTTA-T
• MyVariant Identifiers: chrX:g.72667294_72667300del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667297_72667303del , CM000685.2:g.72667297_72667303del	GRCh38
NC_000023.10:g.71887147_71887153del , CM000685.1:g.71887147_71887153del	GRCh37
NC_000023.9:g.71803872_71803878del	NCBI36
NG_016599.1:g.51880_51886del
NG_016599.2:g.51882_51888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.717+75_717+81del MANE Select	ENSP00000362643.4:n.717+75_717+81del
ENST00000339490.7:c.717+75_717+81del	ENSP00000342469.3:n.717+75_717+81del
ENST00000373539.3:c.717+75_717+81del	ENSP00000362640.3:n.717+75_717+81del
ENST00000373542.8:c.717+75_717+81del	ENSP00000362643.4:n.717+75_717+81del
ENST00000373545.7:c.717+75_717+81del	ENSP00000362646.3:n.717+75_717+81del
ENST00000541944.5:c.717+75_717+81del	ENSP00000441251.1:n.717+75_717+81del
NM_001122670.1:c.717+75_717+81del	NP_001116142.1:n.717+75_717+81del
NM_001172436.1:c.717+75_717+81del	NP_001165907.1:n.717+75_717+81del
NM_002637.3:c.717+75_717+81del	NP_002628.2:n.717+75_717+81del
XM_006724661.2:c.717+75_717+81del	XP_006724724.1:n.717+75_717+81del
XR_001755696.1:n.860+75_860+81del
NM_002637.4:c.717+75_717+81del MANE Select	NP_002628.2:n.717+75_717+81del
NM_001122670.2:c.717+75_717+81del	NP_001116142.1:n.717+75_717+81del
NM_001172436.2:c.717+75_717+81del	NP_001165907.1:n.717+75_717+81del