Canonical Allele Identifier: CA2694091619

Gene: PHKA1

Linked Data

• gnomAD v4: X-72667376-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667378del , CM000685.2:g.72667378del	GRCh38
NC_000023.10:g.71887228del , CM000685.1:g.71887228del	GRCh37
NC_000023.9:g.71803953del	NCBI36
NG_016599.1:g.51803del
NG_016599.2:g.51805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.715del MANE Select	ENSP00000362643.4:p.Gln239SerfsTer4
ENST00000339490.7:c.715del	ENSP00000342469.3:p.Gln239SerfsTer4
ENST00000373539.3:c.715del	ENSP00000362640.3:p.Gln239SerfsTer4
ENST00000373542.8:c.715del	ENSP00000362643.4:p.Gln239SerfsTer4
ENST00000373545.7:c.715del	ENSP00000362646.3:p.Gln239SerfsTer4
ENST00000541944.5:c.715del	ENSP00000441251.1:p.Gln239SerfsTer4
NM_001122670.1:c.715del	NP_001116142.1:p.Gln239SerfsTer4
NM_001172436.1:c.715del	NP_001165907.1:p.Gln239SerfsTer4
NM_002637.3:c.715del	NP_002628.2:p.Gln239SerfsTer4
XM_006724661.2:c.715del	XP_006724724.1:p.Gln239SerfsTer4
XR_001755696.1:n.858del
NM_002637.4:c.715del MANE Select	NP_002628.2:p.Gln239SerfsTer4
NM_001122670.2:c.715del	NP_001116142.1:p.Gln239SerfsTer4
NM_001172436.2:c.715del	NP_001165907.1:p.Gln239SerfsTer4