Canonical Allele Identifier: CA977034577

Gene: PHKB

Linked Data

• dbSNP Id: rs1970355153
• gnomAD v3: 16-47503303-ATTG-A
• gnomAD v4: 16-47503303-ATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47503306_47503308del , CM000678.2:g.47503306_47503308del	GRCh38
NC_000016.9:g.47537217_47537219del , CM000678.1:g.47537217_47537219del	GRCh37
NC_000016.8:g.46094718_46094720del	NCBI36
NG_016598.1:g.47008_47010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.384+216_384+218del	ENSP00000512887.1:n.384+216_384+218del
ENST00000699276.1:c.384+216_384+218del	ENSP00000514257.1:n.384+216_384+218del
ENST00000323584.10:c.405+216_405+218del MANE Select	ENSP00000313504.5:n.405+216_405+218del
ENST00000299167.12:c.405+216_405+218del	ENSP00000299167.8:n.405+216_405+218del
ENST00000323584.9:c.405+216_405+218del	ENSP00000313504.5:n.405+216_405+218del
ENST00000563376.5:c.384+216_384+218del	ENSP00000457905.1:n.384+216_384+218del
ENST00000565424.2:n.96+41880_96+41882del
ENST00000566037.6:c.384+216_384+218del	ENSP00000455664.2:n.384+216_384+218del
ENST00000566044.5:c.384+216_384+218del	ENSP00000456729.1:n.384+216_384+218del
ENST00000567402.5:n.420+216_420+218del
ENST00000570047.2:c.239+216_239+218del
NM_000293.2:c.405+216_405+218del	NP_000284.1:n.405+216_405+218del
NM_001031835.2:c.384+216_384+218del	NP_001027005.1:n.384+216_384+218del
XM_005255983.3:c.405+216_405+218del	XP_005256040.1:n.405+216_405+218del
XM_005255984.3:c.384+216_384+218del	XP_005256041.1:n.384+216_384+218del
XM_011523106.1:c.405+216_405+218del	XP_011521408.1:n.405+216_405+218del
NM_001363837.1:c.405+216_405+218del	NP_001350766.1:n.405+216_405+218del
XM_005255983.4:c.405+216_405+218del	XP_005256040.1:n.405+216_405+218del
XM_005255984.4:c.384+216_384+218del	XP_005256041.1:n.384+216_384+218del
XM_017023283.1:c.-1101+216_-1101+218del	XP_016878772.1:n.-1101+216_-1101+218del
XM_017023284.1:c.-1101+216_-1101+218del	XP_016878773.1:n.-1101+216_-1101+218del
XR_001751913.1:n.420+216_420+218del
NM_000293.3:c.405+216_405+218del MANE Select	NP_000284.1:n.405+216_405+218del
NM_001031835.3:c.384+216_384+218del	NP_001027005.1:n.384+216_384+218del