Canonical Allele Identifier: CA2521553876

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767640_241767644del , CM000664.2:g.241767640_241767644del	GRCh38
NC_000002.11:g.242707055_242707059del , CM000664.1:g.242707055_242707059del	GRCh37
NC_000002.10:g.242355728_242355732del	NCBI36
NG_012012.1:g.38026_38030del

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1307-70_1307-66del MANE Select	ENSP00000315351.4:n.1307-70_1307-66del
ENST00000321264.8:c.1307-70_1307-66del	ENSP00000315351.4:n.1307-70_1307-66del
ENST00000400769.6:c.*57-70_*57-66del	ENSP00000383580.2:n.*57-70_*57-66del
ENST00000403782.5:c.905-70_905-66del	ENSP00000384723.1:n.905-70_905-66del
ENST00000436747.5:c.*2543-70_*2543-66del	ENSP00000400212.1:n.*2543-70_*2543-66del
ENST00000445308.1:c.703-70_703-66del
ENST00000468064.5:n.1197-70_1197-66del
ENST00000470343.5:n.788-70_788-66del
ENST00000473126.1:n.506-70_506-66del
ENST00000486953.5:n.1134-73_1134-69del
ENST00000610344.1:c.*151-70_*151-66del	ENSP00000481906.1:n.*151-70_*151-66del
NM_001287249.1:c.905-70_905-66del	NP_001274178.1:n.905-70_905-66del
NM_152783.4:c.1307-70_1307-66del	NP_689996.4:n.1307-70_1307-66del
NR_109778.1:n.1229-70_1229-66del
XM_011511734.1:c.1427-70_1427-66del	XP_011510036.1:n.1427-70_1427-66del
XM_011511735.1:c.1385-70_1385-66del	XP_011510037.1:n.1385-70_1385-66del
XM_011511736.1:c.1349-70_1349-66del	XP_011510038.1:n.1349-70_1349-66del
XM_011511744.1:c.*39-70_*39-66del	XP_011510046.1:n.*39-70_*39-66del
XM_011511750.1:c.1219-70_1219-66del	XP_011510052.1:n.1219-70_1219-66del
XM_011511754.1:c.866-70_866-66del	XP_011510056.1:n.866-70_866-66del
XM_011511755.1:c.857-70_857-66del	XP_011510057.1:n.857-70_857-66del
XM_011511756.1:c.854-70_854-66del	XP_011510058.1:n.854-70_854-66del
XR_923004.1:n.1939-70_1939-66del
XR_923007.1:n.1649-70_1649-66del
XR_923011.1:n.1750-70_1750-66del
NM_001352824.1:c.746-70_746-66del	NP_001339753.1:n.746-70_746-66del
XM_011511734.2:c.1427-70_1427-66del	XP_011510036.1:n.1427-70_1427-66del
XM_011511735.2:c.1385-70_1385-66del	XP_011510037.1:n.1385-70_1385-66del
XM_011511736.2:c.1349-70_1349-66del	XP_011510038.1:n.1349-70_1349-66del
XM_011511744.2:c.*39-70_*39-66del	XP_011510046.1:n.*39-70_*39-66del
XM_011511750.3:c.1219-70_1219-66del	XP_011510052.1:n.1219-70_1219-66del
XM_011511756.2:c.854-70_854-66del	XP_011510058.1:n.854-70_854-66del
XM_024453102.1:c.1199-70_1199-66del	XP_024308870.1:n.1199-70_1199-66del
XR_001738918.2:n.1681-70_1681-66del
XR_001738919.2:n.1615-70_1615-66del
XR_923004.3:n.1938-70_1938-66del
XR_923007.3:n.1648-70_1648-66del
XR_923011.3:n.1749-70_1749-66del
NM_152783.5:c.1307-70_1307-66del MANE Select	NP_689996.4:n.1307-70_1307-66del
NM_001287249.2:c.905-70_905-66del	NP_001274178.1:n.905-70_905-66del
NM_001352824.2:c.746-70_746-66del	NP_001339753.1:n.746-70_746-66del
NR_109778.2:n.1178-70_1178-66del