Canonical Allele Identifier: CA645594173

Gene: PHKB

Linked Data

• ClinVar Variation Id: 13617
• ClinVar RCV Id: RCV000014587
• dbSNP Id: rs1454293516
• gnomAD v3: 16-47596426-G-GA
• gnomAD v4: 16-47596426-G-GA
• COSMIC: COSM4426084 ; COSM4426086
• MyVariant Identifiers: chr16:g.47630337_47630338insA (hg19) ; chr16:g.47596426_47596427insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47596433dup , CM000678.2:g.47596433dup	GRCh38
NC_000016.9:g.47630344dup , CM000678.1:g.47630344dup	GRCh37
NC_000016.8:g.46187845dup	NCBI36
NG_016598.1:g.140135dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.1244dup	ENSP00000512887.1:p.Asn415LysfsTer2
ENST00000699276.1:c.1244dup	ENSP00000514257.1:p.Asn415LysfsTer2
ENST00000323584.10:c.1265dup MANE Select	ENSP00000313504.5:p.Asn422LysfsTer2
ENST00000299167.12:c.1265dup	ENSP00000299167.8:p.Asn422LysfsTer2
ENST00000323584.9:c.1265dup	ENSP00000313504.5:p.Asn422LysfsTer2
ENST00000566044.5:c.1244dup	ENSP00000456729.1:p.Asn415LysfsTer2
ENST00000566436.1:n.126dup
NM_000293.2:c.1265dup	NP_000284.1:p.Asn422LysfsTer2
NM_001031835.2:c.1244dup	NP_001027005.1:p.Asn415LysfsTer2
XM_005255983.3:c.1265dup	XP_005256040.1:p.Asn422LysfsTer2
XM_005255984.3:c.1244dup	XP_005256041.1:p.Asn415LysfsTer2
XM_011523106.1:c.1265dup	XP_011521408.1:p.Asn422LysfsTer2
NM_001363837.1:c.1265dup	NP_001350766.1:p.Asn422LysfsTer2
XM_005255983.4:c.1265dup	XP_005256040.1:p.Asn422LysfsTer2
XM_005255984.4:c.1244dup	XP_005256041.1:p.Asn415LysfsTer2
XM_017023282.1:c.152dup	XP_016878771.1:p.Asn51LysfsTer2
XM_017023283.1:c.-241dup	XP_016878772.1:n.-241dup
XM_017023284.1:c.-241dup	XP_016878773.1:n.-241dup
XR_001751913.1:n.1280dup
NM_000293.3:c.1265dup MANE Select	NP_000284.1:p.Asn422LysfsTer2
NM_001031835.3:c.1244dup	NP_001027005.1:p.Asn415LysfsTer2