Canonical Allele Identifier: CA2739275231

Gene: PHGDH

Linked Data

• ClinVar Variation Id: 2851357
• ClinVar RCV Id: RCV003608933

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727101del , CM000663.2:g.119727101del	GRCh38
NC_000001.10:g.120269724del , CM000663.1:g.120269724del	GRCh37
NC_000001.9:g.120071247del	NCBI36
NG_009188.1:g.20306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.509del	ENSP00000358417.5:p.Lys170ArgfsTer3
ENST00000462324.2:n.592del
ENST00000641023.2:c.509del MANE Select	ENSP00000493175.1:p.Lys170ArgfsTer3
ENST00000641074.1:c.509del	ENSP00000493446.1:p.Lys170ArgfsTer3
ENST00000641115.1:c.509del	ENSP00000493264.1:p.Lys170ArgfsTer3
ENST00000641213.1:c.*162del	ENSP00000493079.1:n.*162del
ENST00000641247.1:c.*228del	ENSP00000492955.1:n.*228del
ENST00000641272.1:c.443del	ENSP00000493432.1:p.Lys148ArgfsTer3
ENST00000641314.1:n.494del
ENST00000641371.1:c.423del	ENSP00000493305.1:p.Asp142ThrfsTer?
ENST00000641375.1:c.*345del	ENSP00000493089.1:n.*345del
ENST00000641455.1:n.54del
ENST00000641491.1:c.*162del	ENSP00000493187.1:n.*162del
ENST00000641570.1:c.*228del	ENSP00000493213.1:n.*228del
ENST00000641573.1:n.597del
ENST00000641587.1:c.*220del	ENSP00000493453.1:n.*220del
ENST00000641597.1:c.509del	ENSP00000493382.1:p.Lys170ArgfsTer3
ENST00000641756.1:c.*253del	ENSP00000493147.1:n.*253del
ENST00000641811.1:c.265del
ENST00000641847.1:n.368del
ENST00000641891.1:c.*335del	ENSP00000493288.1:n.*335del
ENST00000641927.1:n.449del
ENST00000641947.1:c.509del	ENSP00000492994.1:p.Lys170ArgfsTer3
ENST00000642021.1:n.631del
ENST00000369407.3:c.407del	ENSP00000358415.3:p.Lys136ArgfsTer3
ENST00000369409.8:c.509del	ENSP00000358417.4:p.Lys170ArgfsTer3
ENST00000462324.1:n.777del
ENST00000493622.5:n.698del
NM_006623.3:c.509del	NP_006614.2:p.Lys170ArgfsTer3
XM_011541226.1:c.731del	XP_011539528.1:p.Lys244ArgfsTer3
XM_011541227.1:c.653del	XP_011539529.1:p.Lys218ArgfsTer3
XM_011541228.1:c.620del	XP_011539530.1:p.Lys207ArgfsTer3
XM_011541229.1:c.446del	XP_011539531.1:p.Lys149ArgfsTer3
XM_011541230.1:c.224del	XP_011539532.1:p.Lys75ArgfsTer3
XM_011541231.1:c.215del	XP_011539533.1:p.Lys72ArgfsTer3
XM_011541226.2:c.731del	XP_011539528.1:p.Lys244ArgfsTer3
XM_011541227.2:c.653del	XP_011539529.1:p.Lys218ArgfsTer3
XM_011541228.2:c.620del	XP_011539530.1:p.Lys207ArgfsTer3
XM_011541231.2:c.215del	XP_011539533.1:p.Lys72ArgfsTer3
XM_024446338.1:c.620del	XP_024302106.1:p.Lys207ArgfsTer3
NM_006623.4:c.509del MANE Select	NP_006614.2:p.Lys170ArgfsTer3