Canonical Allele Identifier: CA1339784094

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767443_241767444delinsGA , CM000664.2:g.241767443_241767444delinsGA	GRCh38
NC_000002.11:g.242706858_242706859delinsGA , CM000664.1:g.242706858_242706859delinsGA	GRCh37
NC_000002.10:g.242355531_242355532delinsGA	NCBI36
NG_012012.1:g.37829_37830delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-267_1307-266delinsGA MANE Select	ENSP00000315351.4:n.1307-267_1307-266delinsGA
ENST00000321264.8:c.1307-267_1307-266delinsGA	ENSP00000315351.4:n.1307-267_1307-266delinsGA
ENST00000400769.6:c.*57-267_*57-266delinsGA	ENSP00000383580.2:n.*57-267_*57-266delinsGA
ENST00000403782.5:c.905-267_905-266delinsGA	ENSP00000384723.1:n.905-267_905-266delinsGA
ENST00000436747.5:c.*2543-267_*2543-266delinsGA	ENSP00000400212.1:n.*2543-267_*2543-266delinsGA
ENST00000445308.1:c.703-267_703-266delinsGA
ENST00000468064.5:n.1197-267_1197-266delinsGA
ENST00000470343.5:n.788-267_788-266delinsGA
ENST00000473126.1:n.506-267_506-266delinsGA
ENST00000486953.5:n.1134-270_1134-269delinsGA
ENST00000610344.1:c.*151-267_*151-266delinsGA	ENSP00000481906.1:n.*151-267_*151-266delinsGA
NM_001287249.1:c.905-267_905-266delinsGA	NP_001274178.1:n.905-267_905-266delinsGA
NM_152783.4:c.1307-267_1307-266delinsGA	NP_689996.4:n.1307-267_1307-266delinsGA
NR_109778.1:n.1229-267_1229-266delinsGA
XM_011511734.1:c.1427-267_1427-266delinsGA	XP_011510036.1:n.1427-267_1427-266delinsGA
XM_011511735.1:c.1385-267_1385-266delinsGA	XP_011510037.1:n.1385-267_1385-266delinsGA
XM_011511736.1:c.1349-267_1349-266delinsGA	XP_011510038.1:n.1349-267_1349-266delinsGA
XM_011511744.1:c.*39-267_*39-266delinsGA	XP_011510046.1:n.*39-267_*39-266delinsGA
XM_011511750.1:c.1219-267_1219-266delinsGA	XP_011510052.1:n.1219-267_1219-266delinsGA
XM_011511754.1:c.866-267_866-266delinsGA	XP_011510056.1:n.866-267_866-266delinsGA
XM_011511755.1:c.857-267_857-266delinsGA	XP_011510057.1:n.857-267_857-266delinsGA
XM_011511756.1:c.854-267_854-266delinsGA	XP_011510058.1:n.854-267_854-266delinsGA
XR_923004.1:n.1939-267_1939-266delinsGA
XR_923007.1:n.1649-267_1649-266delinsGA
XR_923011.1:n.1750-267_1750-266delinsGA
NM_001352824.1:c.746-267_746-266delinsGA	NP_001339753.1:n.746-267_746-266delinsGA
XM_011511734.2:c.1427-267_1427-266delinsGA	XP_011510036.1:n.1427-267_1427-266delinsGA
XM_011511735.2:c.1385-267_1385-266delinsGA	XP_011510037.1:n.1385-267_1385-266delinsGA
XM_011511736.2:c.1349-267_1349-266delinsGA	XP_011510038.1:n.1349-267_1349-266delinsGA
XM_011511744.2:c.*39-267_*39-266delinsGA	XP_011510046.1:n.*39-267_*39-266delinsGA
XM_011511750.3:c.1219-267_1219-266delinsGA	XP_011510052.1:n.1219-267_1219-266delinsGA
XM_011511756.2:c.854-267_854-266delinsGA	XP_011510058.1:n.854-267_854-266delinsGA
XM_024453102.1:c.1199-267_1199-266delinsGA	XP_024308870.1:n.1199-267_1199-266delinsGA
XR_001738918.2:n.1681-267_1681-266delinsGA
XR_001738919.2:n.1615-267_1615-266delinsGA
XR_923004.3:n.1938-267_1938-266delinsGA
XR_923007.3:n.1648-267_1648-266delinsGA
XR_923011.3:n.1749-267_1749-266delinsGA
NM_152783.5:c.1307-267_1307-266delinsGA MANE Select	NP_689996.4:n.1307-267_1307-266delinsGA
NM_001287249.2:c.905-267_905-266delinsGA	NP_001274178.1:n.905-267_905-266delinsGA
NM_001352824.2:c.746-267_746-266delinsGA	NP_001339753.1:n.746-267_746-266delinsGA
NR_109778.2:n.1178-267_1178-266delinsGA