Canonical Allele Identifier: CA622395980

Gene: PHKB

Linked Data

• dbSNP Id: rs1462110153
• gnomAD v2: 16-47732533-TGA-T
• gnomAD v3: 16-47698622-TGA-T
• gnomAD v4: 16-47698622-TGA-T
• MyVariant Identifiers: chr16:g.47732534_47732535del (hg19) ; chr16:g.47732536_47732538delinsA (hg19) ; chr16:g.47698623_47698624del (hg38) ; chr16:g.47698625_47698627delinsA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47698625_47698626del , CM000678.2:g.47698625_47698626del	GRCh38
NC_000016.9:g.47732536_47732537del , CM000678.1:g.47732536_47732537del	GRCh37
NC_000016.8:g.46290037_46290038del	NCBI36
NG_016598.1:g.242327_242328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1718+37_*1718+38del	ENSP00000512887.1:n.*1718+37_*1718+38del
ENST00000699276.1:c.*772+37_*772+38del	ENSP00000514257.1:n.*772+37_*772+38del
ENST00000323584.10:c.3144+37_3144+38del MANE Select	ENSP00000313504.5:n.3144+37_3144+38del
ENST00000299167.12:c.3144+37_3144+38del	ENSP00000299167.8:n.3144+37_3144+38del
ENST00000323584.9:c.3144+37_3144+38del	ENSP00000313504.5:n.3144+37_3144+38del
ENST00000564711.2:c.158+37_158+38del
ENST00000566044.5:c.3123+37_3123+38del	ENSP00000456729.1:n.3123+37_3123+38del
ENST00000566319.2:n.1960+37_1960+38del
NM_000293.2:c.3144+37_3144+38del	NP_000284.1:n.3144+37_3144+38del
NM_001031835.2:c.3123+37_3123+38del	NP_001027005.1:n.3123+37_3123+38del
XM_005255983.3:c.3144+37_3144+38del	XP_005256040.1:n.3144+37_3144+38del
XM_005255984.3:c.3123+37_3123+38del	XP_005256041.1:n.3123+37_3123+38del
XM_011523107.1:c.1722+37_1722+38del	XP_011521409.1:n.1722+37_1722+38del
NM_001363837.1:c.3144+37_3144+38del	NP_001350766.1:n.3144+37_3144+38del
XM_005255983.4:c.3144+37_3144+38del	XP_005256040.1:n.3144+37_3144+38del
XM_005255984.4:c.3123+37_3123+38del	XP_005256041.1:n.3123+37_3123+38del
XM_017023282.1:c.2031+37_2031+38del	XP_016878771.1:n.2031+37_2031+38del
XM_017023283.1:c.1722+37_1722+38del	XP_016878772.1:n.1722+37_1722+38del
XM_017023284.1:c.1722+37_1722+38del	XP_016878773.1:n.1722+37_1722+38del
XR_001751913.1:n.3068+37_3068+38del
NM_000293.3:c.3144+37_3144+38del MANE Select	NP_000284.1:n.3144+37_3144+38del
NM_001031835.3:c.3123+37_3123+38del	NP_001027005.1:n.3123+37_3123+38del