Canonical Allele Identifier: CA2694091619
Gene: PHKA1 HGNC NCBI

Linked Data

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