Canonical Allele Identifier: CA2577311978

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767745del , CM000664.2:g.241767745del	GRCh38
NC_000002.11:g.242707160del , CM000664.1:g.242707160del	GRCh37
NC_000002.10:g.242355833del	NCBI36
NG_012012.1:g.38131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1342del MANE Select	ENSP00000315351.4:p.Ala448ProfsTer?
ENST00000321264.8:c.1342del	ENSP00000315351.4:p.Ala448ProfsTer?
ENST00000400769.6:c.*92del	ENSP00000383580.2:n.*92del
ENST00000403782.5:c.940del	ENSP00000384723.1:p.Ala314ProfsTer?
ENST00000436747.5:c.*2578del	ENSP00000400212.1:n.*2578del
ENST00000445308.1:c.738del
ENST00000468064.5:n.1232del
ENST00000470343.5:n.823del
ENST00000473126.1:n.541del
ENST00000486953.5:n.1166del
ENST00000610344.1:c.*186del	ENSP00000481906.1:n.*186del
NM_001287249.1:c.940del	NP_001274178.1:p.Ala314ProfsTer?
NM_152783.4:c.1342del	NP_689996.4:p.Ala448ProfsTer?
NR_109778.1:n.1264del
XM_011511734.1:c.1462del	XP_011510036.1:p.Ala488ProfsTer?
XM_011511735.1:c.1420del	XP_011510037.1:p.Ala474ProfsTer?
XM_011511736.1:c.1384del	XP_011510038.1:p.Ala462ProfsTer?
XM_011511744.1:c.*74del	XP_011510046.1:n.*74del
XM_011511750.1:c.*9del	XP_011510052.1:n.*9del
XM_011511754.1:c.901del	XP_011510056.1:p.Ala301ProfsTer?
XM_011511755.1:c.892del	XP_011510057.1:p.Ala298ProfsTer?
XM_011511756.1:c.889del	XP_011510058.1:p.Ala297ProfsTer?
XR_923004.1:n.1974del
XR_923007.1:n.1684del
XR_923011.1:n.1785del
NM_001352824.1:c.781del	NP_001339753.1:p.Ala261ProfsTer?
XM_011511734.2:c.1462del	XP_011510036.1:p.Ala488ProfsTer?
XM_011511735.2:c.1420del	XP_011510037.1:p.Ala474ProfsTer?
XM_011511736.2:c.1384del	XP_011510038.1:p.Ala462ProfsTer?
XM_011511744.2:c.*74del	XP_011510046.1:n.*74del
XM_011511750.3:c.*9del	XP_011510052.1:n.*9del
XM_011511756.2:c.889del	XP_011510058.1:p.Ala297ProfsTer?
XM_024453102.1:c.1234del	XP_024308870.1:p.Ala412ProfsTer?
XR_001738918.2:n.1716del
XR_001738919.2:n.1650del
XR_923004.3:n.1973del
XR_923007.3:n.1683del
XR_923011.3:n.1784del
NM_152783.5:c.1342del MANE Select	NP_689996.4:p.Ala448ProfsTer?
NM_001287249.2:c.940del	NP_001274178.1:p.Ala314ProfsTer?
NM_001352824.2:c.781del	NP_001339753.1:p.Ala261ProfsTer?
NR_109778.2:n.1213del