Canonical Allele Identifier: CA2633050249

Gene: PHKB

Linked Data

• gnomAD v4: 16-47698601-CTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698618_47698622del , CM000678.2:g.47698618_47698622del	GRCh38
NC_000016.9:g.47732529_47732533del , CM000678.1:g.47732529_47732533del	GRCh37
NC_000016.8:g.46290030_46290034del	NCBI36
NG_016598.1:g.242320_242324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+30_*1718+34del	ENSP00000512887.1:n.*1718+30_*1718+34del
ENST00000699276.1:c.*772+30_*772+34del	ENSP00000514257.1:n.*772+30_*772+34del
ENST00000323584.10:c.3144+30_3144+34del MANE Select	ENSP00000313504.5:n.3144+30_3144+34del
ENST00000299167.12:c.3144+30_3144+34del	ENSP00000299167.8:n.3144+30_3144+34del
ENST00000323584.9:c.3144+30_3144+34del	ENSP00000313504.5:n.3144+30_3144+34del
ENST00000564711.2:c.158+30_158+34del
ENST00000566044.5:c.3123+30_3123+34del	ENSP00000456729.1:n.3123+30_3123+34del
ENST00000566319.2:n.1960+30_1960+34del
NM_000293.2:c.3144+30_3144+34del	NP_000284.1:n.3144+30_3144+34del
NM_001031835.2:c.3123+30_3123+34del	NP_001027005.1:n.3123+30_3123+34del
XM_005255983.3:c.3144+30_3144+34del	XP_005256040.1:n.3144+30_3144+34del
XM_005255984.3:c.3123+30_3123+34del	XP_005256041.1:n.3123+30_3123+34del
XM_011523107.1:c.1722+30_1722+34del	XP_011521409.1:n.1722+30_1722+34del
NM_001363837.1:c.3144+30_3144+34del	NP_001350766.1:n.3144+30_3144+34del
XM_005255983.4:c.3144+30_3144+34del	XP_005256040.1:n.3144+30_3144+34del
XM_005255984.4:c.3123+30_3123+34del	XP_005256041.1:n.3123+30_3123+34del
XM_017023282.1:c.2031+30_2031+34del	XP_016878771.1:n.2031+30_2031+34del
XM_017023283.1:c.1722+30_1722+34del	XP_016878772.1:n.1722+30_1722+34del
XM_017023284.1:c.1722+30_1722+34del	XP_016878773.1:n.1722+30_1722+34del
XR_001751913.1:n.3068+30_3068+34del
NM_000293.3:c.3144+30_3144+34del MANE Select	NP_000284.1:n.3144+30_3144+34del
NM_001031835.3:c.3123+30_3123+34del	NP_001027005.1:n.3123+30_3123+34del