Canonical Allele Identifier: CA2220492741
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696499_47696500delinsAG , CM000678.2:g.47696499_47696500delinsAG GRCh38
NC_000016.9:g.47730410_47730411delinsAG , CM000678.1:g.47730410_47730411delinsAG GRCh37
NC_000016.8:g.46287911_46287912delinsAG NCBI36
NG_016598.1:g.240201_240202delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1577+11_*1577+12delinsAG ENSP00000512887.1:n.*1577+11_*1577+12delinsAG
ENST00000699276.1:c.*631+11_*631+12delinsAG ENSP00000514257.1:n.*631+11_*631+12delinsAG
ENST00000323584.10:c.3003+11_3003+12delinsAG MANE Select ENSP00000313504.5:n.3003+11_3003+12delinsAG
ENST00000299167.12:c.3003+11_3003+12delinsAG ENSP00000299167.8:n.3003+11_3003+12delinsAG
ENST00000323584.9:c.3003+11_3003+12delinsAG ENSP00000313504.5:n.3003+11_3003+12delinsAG
ENST00000564711.2:c.17+11_17+12delinsAG
ENST00000566044.5:c.2982+11_2982+12delinsAG ENSP00000456729.1:n.2982+11_2982+12delinsAG
ENST00000566319.2:n.1819+11_1819+12delinsAG
NM_000293.2:c.3003+11_3003+12delinsAG NP_000284.1:n.3003+11_3003+12delinsAG
NM_001031835.2:c.2982+11_2982+12delinsAG NP_001027005.1:n.2982+11_2982+12delinsAG
XM_005255983.3:c.3003+11_3003+12delinsAG XP_005256040.1:n.3003+11_3003+12delinsAG
XM_005255984.3:c.2982+11_2982+12delinsAG XP_005256041.1:n.2982+11_2982+12delinsAG
XM_011523107.1:c.1581+11_1581+12delinsAG XP_011521409.1:n.1581+11_1581+12delinsAG
NM_001363837.1:c.3003+11_3003+12delinsAG NP_001350766.1:n.3003+11_3003+12delinsAG
XM_005255983.4:c.3003+11_3003+12delinsAG XP_005256040.1:n.3003+11_3003+12delinsAG
XM_005255984.4:c.2982+11_2982+12delinsAG XP_005256041.1:n.2982+11_2982+12delinsAG
XM_017023282.1:c.1890+11_1890+12delinsAG XP_016878771.1:n.1890+11_1890+12delinsAG
XM_017023283.1:c.1581+11_1581+12delinsAG XP_016878772.1:n.1581+11_1581+12delinsAG
XM_017023284.1:c.1581+11_1581+12delinsAG XP_016878773.1:n.1581+11_1581+12delinsAG
XR_001751913.1:n.2927+11_2927+12delinsAG
NM_000293.3:c.3003+11_3003+12delinsAG MANE Select NP_000284.1:n.3003+11_3003+12delinsAG
NM_001031835.3:c.2982+11_2982+12delinsAG NP_001027005.1:n.2982+11_2982+12delinsAG