Canonical Allele Identifier: CA2633050239
Gene: PHKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000678.2:g.47698622_47698623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh38
NC_000016.9:g.47732533_47732534insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000678.1:g.47732533_47732534insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh37
NC_000016.8:g.46290034_46290035insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NCBI36
NG_016598.1:g.242324_242325insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000512887.1:n.*1718+34_*1718+35insTTTTTTTTTTTTTTTTTTTTT...
ENST00000699276.1:c.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000514257.1:n.*772+34_*772+35insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000323584.10:c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select ENSP00000313504.5:n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000299167.12:c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000299167.8:n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000323584.9:c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000313504.5:n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000564711.2:c.158+34_158+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000566044.5:c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ENSP00000456729.1:n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTT...
ENST00000566319.2:n.1960+34_1960+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_000293.2:c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_000284.1:n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001031835.2:c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001027005.1:n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005255983.3:c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005256040.1:n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005255984.3:c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005256041.1:n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011523107.1:c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_011521409.1:n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001363837.1:c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001350766.1:n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005255983.4:c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005256040.1:n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_005255984.4:c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_005256041.1:n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017023282.1:c.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_016878771.1:n.2031+34_2031+35insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017023283.1:c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_016878772.1:n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017023284.1:c.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XP_016878773.1:n.1722+34_1722+35insTTTTTTTTTTTTTTTTTTTTTTTTTT...
XR_001751913.1:n.3068+34_3068+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_000293.3:c.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select NP_000284.1:n.3144+34_3144+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001031835.3:c.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NP_001027005.1:n.3123+34_3123+35insTTTTTTTTTTTTTTTTTTTTTTTTTT...