Canonical Allele Identifier: CA977034500

Gene: PHKB

Linked Data

• dbSNP Id: rs1973226625
• gnomAD v3: 16-47650939-AGTATGCATCTATTTTCAGGACAGT-A
• gnomAD v4: 16-47650939-AGTATGCATCTATTTTCAGGACAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47650940_47650963del , CM000678.2:g.47650940_47650963del	GRCh38
NC_000016.9:g.47684851_47684874del , CM000678.1:g.47684851_47684874del	GRCh37
NC_000016.8:g.46242352_46242375del	NCBI36
NG_016598.1:g.194642_194665del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696809.1:c.*545+19_*545+42del	ENSP00000512887.1:n.*545+19_*545+42del
ENST00000699276.1:c.1950+19_1950+42del	ENSP00000514257.1:n.1950+19_1950+42del
ENST00000323584.10:c.1971+19_1971+42del MANE Select	ENSP00000313504.5:n.1971+19_1971+42del
ENST00000299167.12:c.1971+19_1971+42del	ENSP00000299167.8:n.1971+19_1971+42del
ENST00000323584.9:c.1971+19_1971+42del	ENSP00000313504.5:n.1971+19_1971+42del
ENST00000566044.5:c.1950+19_1950+42del	ENSP00000456729.1:n.1950+19_1950+42del
ENST00000568171.1:n.92+19_92+42del
NM_000293.2:c.1971+19_1971+42del	NP_000284.1:n.1971+19_1971+42del
NM_001031835.2:c.1950+19_1950+42del	NP_001027005.1:n.1950+19_1950+42del
XM_005255983.3:c.1971+19_1971+42del	XP_005256040.1:n.1971+19_1971+42del
XM_005255984.3:c.1950+19_1950+42del	XP_005256041.1:n.1950+19_1950+42del
XM_011523106.1:c.1971+19_1971+42del	XP_011521408.1:n.1971+19_1971+42del
XM_011523107.1:c.549+19_549+42del	XP_011521409.1:n.549+19_549+42del
NM_001363837.1:c.1971+19_1971+42del	NP_001350766.1:n.1971+19_1971+42del
XM_005255983.4:c.1971+19_1971+42del	XP_005256040.1:n.1971+19_1971+42del
XM_005255984.4:c.1950+19_1950+42del	XP_005256041.1:n.1950+19_1950+42del
XM_017023282.1:c.858+19_858+42del	XP_016878771.1:n.858+19_858+42del
XM_017023283.1:c.549+19_549+42del	XP_016878772.1:n.549+19_549+42del
XM_017023284.1:c.549+19_549+42del	XP_016878773.1:n.549+19_549+42del
XR_001751913.1:n.1986+19_1986+42del
NM_000293.3:c.1971+19_1971+42del MANE Select	NP_000284.1:n.1971+19_1971+42del
NM_001031835.3:c.1950+19_1950+42del	NP_001027005.1:n.1950+19_1950+42del