Canonical Allele Identifier: CA2575984608

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696490_47696491del , CM000678.2:g.47696490_47696491del	GRCh38
NC_000016.9:g.47730401_47730402del , CM000678.1:g.47730401_47730402del	GRCh37
NC_000016.8:g.46287902_46287903del	NCBI36
NG_016598.1:g.240192_240193del

Transcript Alleles

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