Canonical Allele Identifier: CA2647393605

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119727098-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119727099del , CM000663.2:g.119727099del	GRCh38
NC_000001.10:g.120269722del , CM000663.1:g.120269722del	GRCh37
NC_000001.9:g.120071245del	NCBI36
NG_009188.1:g.20304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.507del	ENSP00000358417.5:p.Met169IlefsTer4
ENST00000462324.2:n.590del
ENST00000641023.2:c.507del MANE Select	ENSP00000493175.1:p.Met169IlefsTer4
ENST00000641074.1:c.507del	ENSP00000493446.1:p.Met169IlefsTer4
ENST00000641115.1:c.507del	ENSP00000493264.1:p.Met169IlefsTer4
ENST00000641213.1:c.*160del	ENSP00000493079.1:n.*160del
ENST00000641247.1:c.*226del	ENSP00000492955.1:n.*226del
ENST00000641272.1:c.441del	ENSP00000493432.1:p.Met147IlefsTer4
ENST00000641314.1:n.492del
ENST00000641371.1:c.421del	ENSP00000493305.1:p.Glu141LysfsTer?
ENST00000641375.1:c.*343del	ENSP00000493089.1:n.*343del
ENST00000641455.1:n.52del
ENST00000641491.1:c.*160del	ENSP00000493187.1:n.*160del
ENST00000641570.1:c.*226del	ENSP00000493213.1:n.*226del
ENST00000641573.1:n.595del
ENST00000641587.1:c.*218del	ENSP00000493453.1:n.*218del
ENST00000641597.1:c.507del	ENSP00000493382.1:p.Met169IlefsTer4
ENST00000641756.1:c.*251del	ENSP00000493147.1:n.*251del
ENST00000641811.1:c.263del
ENST00000641847.1:n.366del
ENST00000641891.1:c.*333del	ENSP00000493288.1:n.*333del
ENST00000641927.1:n.447del
ENST00000641947.1:c.507del	ENSP00000492994.1:p.Met169IlefsTer4
ENST00000642021.1:n.629del
ENST00000369407.3:c.405del	ENSP00000358415.3:p.Met135IlefsTer4
ENST00000369409.8:c.507del	ENSP00000358417.4:p.Met169IlefsTer4
ENST00000462324.1:n.775del
ENST00000493622.5:n.696del
NM_006623.3:c.507del	NP_006614.2:p.Met169IlefsTer4
XM_011541226.1:c.729del	XP_011539528.1:p.Met243IlefsTer4
XM_011541227.1:c.651del	XP_011539529.1:p.Met217IlefsTer4
XM_011541228.1:c.618del	XP_011539530.1:p.Met206IlefsTer4
XM_011541229.1:c.444del	XP_011539531.1:p.Met148IlefsTer4
XM_011541230.1:c.222del	XP_011539532.1:p.Met74IlefsTer4
XM_011541231.1:c.213del	XP_011539533.1:p.Met71IlefsTer4
XM_011541226.2:c.729del	XP_011539528.1:p.Met243IlefsTer4
XM_011541227.2:c.651del	XP_011539529.1:p.Met217IlefsTer4
XM_011541228.2:c.618del	XP_011539530.1:p.Met206IlefsTer4
XM_011541231.2:c.213del	XP_011539533.1:p.Met71IlefsTer4
XM_024446338.1:c.618del	XP_024302106.1:p.Met206IlefsTer4
NM_006623.4:c.507del MANE Select	NP_006614.2:p.Met169IlefsTer4