Canonical Allele Identifier: CA977063231

Gene: PHKB

Linked Data

• gnomAD v3: 16-47698622-T-TTG
• gnomAD v4: 16-47698622-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698622_47698623insTG , CM000678.2:g.47698622_47698623insTG	GRCh38
NC_000016.9:g.47732533_47732534insTG , CM000678.1:g.47732533_47732534insTG	GRCh37
NC_000016.8:g.46290034_46290035insTG	NCBI36
NG_016598.1:g.242324_242325insTG

Transcript Alleles

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