Canonical Allele Identifier: CA2575984611
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696521dup , CM000678.2:g.47696521dup GRCh38
NC_000016.9:g.47730432dup , CM000678.1:g.47730432dup GRCh37
NC_000016.8:g.46287933dup NCBI36
NG_016598.1:g.240223dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1577+33dup ENSP00000512887.1:n.*1577+33dup
ENST00000699276.1:c.*631+33dup ENSP00000514257.1:n.*631+33dup
ENST00000323584.10:c.3003+33dup MANE Select ENSP00000313504.5:n.3003+33dup
ENST00000299167.12:c.3003+33dup ENSP00000299167.8:n.3003+33dup
ENST00000323584.9:c.3003+33dup ENSP00000313504.5:n.3003+33dup
ENST00000564711.2:c.17+33dup
ENST00000566044.5:c.2982+33dup ENSP00000456729.1:n.2982+33dup
ENST00000566319.2:n.1819+33dup
NM_000293.2:c.3003+33dup NP_000284.1:n.3003+33dup
NM_001031835.2:c.2982+33dup NP_001027005.1:n.2982+33dup
XM_005255983.3:c.3003+33dup XP_005256040.1:n.3003+33dup
XM_005255984.3:c.2982+33dup XP_005256041.1:n.2982+33dup
XM_011523107.1:c.1581+33dup XP_011521409.1:n.1581+33dup
NM_001363837.1:c.3003+33dup NP_001350766.1:n.3003+33dup
XM_005255983.4:c.3003+33dup XP_005256040.1:n.3003+33dup
XM_005255984.4:c.2982+33dup XP_005256041.1:n.2982+33dup
XM_017023282.1:c.1890+33dup XP_016878771.1:n.1890+33dup
XM_017023283.1:c.1581+33dup XP_016878772.1:n.1581+33dup
XM_017023284.1:c.1581+33dup XP_016878773.1:n.1581+33dup
XR_001751913.1:n.2927+33dup
NM_000293.3:c.3003+33dup MANE Select NP_000284.1:n.3003+33dup
NM_001031835.3:c.2982+33dup NP_001027005.1:n.2982+33dup