Canonical Allele Identifier: CA1339784063

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767394_241767397delinsAGGG , CM000664.2:g.241767394_241767397delinsAGGG	GRCh38
NC_000002.11:g.242706809_242706812delinsAGGG , CM000664.1:g.242706809_242706812delinsAGGG	GRCh37
NC_000002.10:g.242355482_242355485delinsAGGG	NCBI36
NG_012012.1:g.37780_37783delinsAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-316_1307-313delinsAGGG MANE Select	ENSP00000315351.4:n.1307-316_1307-313delinsAGGG
ENST00000321264.8:c.1307-316_1307-313delinsAGGG	ENSP00000315351.4:n.1307-316_1307-313delinsAGGG
ENST00000400769.6:c.*57-316_*57-313delinsAGGG	ENSP00000383580.2:n.*57-316_*57-313delinsAGGG
ENST00000403782.5:c.905-316_905-313delinsAGGG	ENSP00000384723.1:n.905-316_905-313delinsAGGG
ENST00000436747.5:c.*2543-316_*2543-313delinsAGGG	ENSP00000400212.1:n.*2543-316_*2543-313delinsAGGG
ENST00000445308.1:c.703-316_703-313delinsAGGG
ENST00000468064.5:n.1197-316_1197-313delinsAGGG
ENST00000470343.5:n.788-316_788-313delinsAGGG
ENST00000473126.1:n.506-316_506-313delinsAGGG
ENST00000486953.5:n.1134-319_1134-316delinsAGGG
ENST00000610344.1:c.*151-316_*151-313delinsAGGG	ENSP00000481906.1:n.*151-316_*151-313delinsAGGG
NM_001287249.1:c.905-316_905-313delinsAGGG	NP_001274178.1:n.905-316_905-313delinsAGGG
NM_152783.4:c.1307-316_1307-313delinsAGGG	NP_689996.4:n.1307-316_1307-313delinsAGGG
NR_109778.1:n.1229-316_1229-313delinsAGGG
XM_011511734.1:c.1427-316_1427-313delinsAGGG	XP_011510036.1:n.1427-316_1427-313delinsAGGG
XM_011511735.1:c.1385-316_1385-313delinsAGGG	XP_011510037.1:n.1385-316_1385-313delinsAGGG
XM_011511736.1:c.1349-316_1349-313delinsAGGG	XP_011510038.1:n.1349-316_1349-313delinsAGGG
XM_011511744.1:c.*39-316_*39-313delinsAGGG	XP_011510046.1:n.*39-316_*39-313delinsAGGG
XM_011511750.1:c.1219-316_1219-313delinsAGGG	XP_011510052.1:n.1219-316_1219-313delinsAGGG
XM_011511754.1:c.866-316_866-313delinsAGGG	XP_011510056.1:n.866-316_866-313delinsAGGG
XM_011511755.1:c.857-316_857-313delinsAGGG	XP_011510057.1:n.857-316_857-313delinsAGGG
XM_011511756.1:c.854-316_854-313delinsAGGG	XP_011510058.1:n.854-316_854-313delinsAGGG
XR_923004.1:n.1939-316_1939-313delinsAGGG
XR_923007.1:n.1649-316_1649-313delinsAGGG
XR_923011.1:n.1750-316_1750-313delinsAGGG
NM_001352824.1:c.746-316_746-313delinsAGGG	NP_001339753.1:n.746-316_746-313delinsAGGG
XM_011511734.2:c.1427-316_1427-313delinsAGGG	XP_011510036.1:n.1427-316_1427-313delinsAGGG
XM_011511735.2:c.1385-316_1385-313delinsAGGG	XP_011510037.1:n.1385-316_1385-313delinsAGGG
XM_011511736.2:c.1349-316_1349-313delinsAGGG	XP_011510038.1:n.1349-316_1349-313delinsAGGG
XM_011511744.2:c.*39-316_*39-313delinsAGGG	XP_011510046.1:n.*39-316_*39-313delinsAGGG
XM_011511750.3:c.1219-316_1219-313delinsAGGG	XP_011510052.1:n.1219-316_1219-313delinsAGGG
XM_011511756.2:c.854-316_854-313delinsAGGG	XP_011510058.1:n.854-316_854-313delinsAGGG
XM_024453102.1:c.1199-316_1199-313delinsAGGG	XP_024308870.1:n.1199-316_1199-313delinsAGGG
XR_001738918.2:n.1681-316_1681-313delinsAGGG
XR_001738919.2:n.1615-316_1615-313delinsAGGG
XR_923004.3:n.1938-316_1938-313delinsAGGG
XR_923007.3:n.1648-316_1648-313delinsAGGG
XR_923011.3:n.1749-316_1749-313delinsAGGG
NM_152783.5:c.1307-316_1307-313delinsAGGG MANE Select	NP_689996.4:n.1307-316_1307-313delinsAGGG
NM_001287249.2:c.905-316_905-313delinsAGGG	NP_001274178.1:n.905-316_905-313delinsAGGG
NM_001352824.2:c.746-316_746-313delinsAGGG	NP_001339753.1:n.746-316_746-313delinsAGGG
NR_109778.2:n.1178-316_1178-313delinsAGGG