Canonical Allele Identifier: CA977063178

Gene: PHKB

Linked Data

• gnomAD v3: 16-47698621-TTGAGAA-T
• gnomAD v4: 16-47698621-TTGAGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698623_47698628del , CM000678.2:g.47698623_47698628del	GRCh38
NC_000016.9:g.47732534_47732539del , CM000678.1:g.47732534_47732539del	GRCh37
NC_000016.8:g.46290035_46290040del	NCBI36
NG_016598.1:g.242325_242330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+35_*1718+40del	ENSP00000512887.1:n.*1718+35_*1718+40del
ENST00000699276.1:c.*772+35_*772+40del	ENSP00000514257.1:n.*772+35_*772+40del
ENST00000323584.10:c.3144+35_3144+40del MANE Select	ENSP00000313504.5:n.3144+35_3144+40del
ENST00000299167.12:c.3144+35_3144+40del	ENSP00000299167.8:n.3144+35_3144+40del
ENST00000323584.9:c.3144+35_3144+40del	ENSP00000313504.5:n.3144+35_3144+40del
ENST00000564711.2:c.158+35_158+40del
ENST00000566044.5:c.3123+35_3123+40del	ENSP00000456729.1:n.3123+35_3123+40del
ENST00000566319.2:n.1960+35_1960+40del
NM_000293.2:c.3144+35_3144+40del	NP_000284.1:n.3144+35_3144+40del
NM_001031835.2:c.3123+35_3123+40del	NP_001027005.1:n.3123+35_3123+40del
XM_005255983.3:c.3144+35_3144+40del	XP_005256040.1:n.3144+35_3144+40del
XM_005255984.3:c.3123+35_3123+40del	XP_005256041.1:n.3123+35_3123+40del
XM_011523107.1:c.1722+35_1722+40del	XP_011521409.1:n.1722+35_1722+40del
NM_001363837.1:c.3144+35_3144+40del	NP_001350766.1:n.3144+35_3144+40del
XM_005255983.4:c.3144+35_3144+40del	XP_005256040.1:n.3144+35_3144+40del
XM_005255984.4:c.3123+35_3123+40del	XP_005256041.1:n.3123+35_3123+40del
XM_017023282.1:c.2031+35_2031+40del	XP_016878771.1:n.2031+35_2031+40del
XM_017023283.1:c.1722+35_1722+40del	XP_016878772.1:n.1722+35_1722+40del
XM_017023284.1:c.1722+35_1722+40del	XP_016878773.1:n.1722+35_1722+40del
XR_001751913.1:n.3068+35_3068+40del
NM_000293.3:c.3144+35_3144+40del MANE Select	NP_000284.1:n.3144+35_3144+40del
NM_001031835.3:c.3123+35_3123+40del	NP_001027005.1:n.3123+35_3123+40del