Canonical Allele Identifier: CA2436843925
Gene: PHKA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72667231_72667232delinsCT , CM000685.2:g.72667231_72667232delinsCT GRCh38
NC_000023.10:g.71887081_71887082delinsCT , CM000685.1:g.71887081_71887082delinsCT GRCh37
NC_000023.9:g.71803806_71803807delinsCT NCBI36
NG_016599.1:g.51948_51949delinsAG
NG_016599.2:g.51950_51951delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000373542.9:c.717+143_717+144delinsAG MANE Select ENSP00000362643.4:n.717+143_717+144delinsAG
ENST00000339490.7:c.717+143_717+144delinsAG ENSP00000342469.3:n.717+143_717+144delinsAG
ENST00000373539.3:c.717+143_717+144delinsAG ENSP00000362640.3:n.717+143_717+144delinsAG
ENST00000373542.8:c.717+143_717+144delinsAG ENSP00000362643.4:n.717+143_717+144delinsAG
ENST00000373545.7:c.717+143_717+144delinsAG ENSP00000362646.3:n.717+143_717+144delinsAG
ENST00000541944.5:c.717+143_717+144delinsAG ENSP00000441251.1:n.717+143_717+144delinsAG
NM_001122670.1:c.717+143_717+144delinsAG NP_001116142.1:n.717+143_717+144delinsAG
NM_001172436.1:c.717+143_717+144delinsAG NP_001165907.1:n.717+143_717+144delinsAG
NM_002637.3:c.717+143_717+144delinsAG NP_002628.2:n.717+143_717+144delinsAG
XM_006724661.2:c.717+143_717+144delinsAG XP_006724724.1:n.717+143_717+144delinsAG
XR_001755696.1:n.860+143_860+144delinsAG
NM_002637.4:c.717+143_717+144delinsAG MANE Select NP_002628.2:n.717+143_717+144delinsAG
NM_001122670.2:c.717+143_717+144delinsAG NP_001116142.1:n.717+143_717+144delinsAG
NM_001172436.2:c.717+143_717+144delinsAG NP_001165907.1:n.717+143_717+144delinsAG