Canonical Allele Identifier: CA2754920208

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767294_241767295insC , CM000664.2:g.241767294_241767295insC	GRCh38
NC_000002.11:g.242706709_242706710insC , CM000664.1:g.242706709_242706710insC	GRCh37
NC_000002.10:g.242355382_242355383insC	NCBI36
NG_012012.1:g.37680_37681insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-416_1307-415insC MANE Select	ENSP00000315351.4:n.1307-416_1307-415insC
ENST00000321264.8:c.1307-416_1307-415insC	ENSP00000315351.4:n.1307-416_1307-415insC
ENST00000400769.6:c.*57-416_*57-415insC	ENSP00000383580.2:n.*57-416_*57-415insC
ENST00000403782.5:c.905-416_905-415insC	ENSP00000384723.1:n.905-416_905-415insC
ENST00000436747.5:c.*2543-416_*2543-415insC	ENSP00000400212.1:n.*2543-416_*2543-415insC
ENST00000445308.1:c.703-416_703-415insC
ENST00000468064.5:n.1197-416_1197-415insC
ENST00000470343.5:n.788-416_788-415insC
ENST00000473126.1:n.506-416_506-415insC
ENST00000486953.5:n.1134-419_1134-418insC
ENST00000610344.1:c.*151-416_*151-415insC	ENSP00000481906.1:n.*151-416_*151-415insC
NM_001287249.1:c.905-416_905-415insC	NP_001274178.1:n.905-416_905-415insC
NM_152783.4:c.1307-416_1307-415insC	NP_689996.4:n.1307-416_1307-415insC
NR_109778.1:n.1229-416_1229-415insC
XM_011511734.1:c.1427-416_1427-415insC	XP_011510036.1:n.1427-416_1427-415insC
XM_011511735.1:c.1385-416_1385-415insC	XP_011510037.1:n.1385-416_1385-415insC
XM_011511736.1:c.1349-416_1349-415insC	XP_011510038.1:n.1349-416_1349-415insC
XM_011511744.1:c.*39-416_*39-415insC	XP_011510046.1:n.*39-416_*39-415insC
XM_011511750.1:c.1219-416_1219-415insC	XP_011510052.1:n.1219-416_1219-415insC
XM_011511754.1:c.866-416_866-415insC	XP_011510056.1:n.866-416_866-415insC
XM_011511755.1:c.857-416_857-415insC	XP_011510057.1:n.857-416_857-415insC
XM_011511756.1:c.854-416_854-415insC	XP_011510058.1:n.854-416_854-415insC
XR_923004.1:n.1939-416_1939-415insC
XR_923007.1:n.1649-416_1649-415insC
XR_923011.1:n.1750-416_1750-415insC
NM_001352824.1:c.746-416_746-415insC	NP_001339753.1:n.746-416_746-415insC
XM_011511734.2:c.1427-416_1427-415insC	XP_011510036.1:n.1427-416_1427-415insC
XM_011511735.2:c.1385-416_1385-415insC	XP_011510037.1:n.1385-416_1385-415insC
XM_011511736.2:c.1349-416_1349-415insC	XP_011510038.1:n.1349-416_1349-415insC
XM_011511744.2:c.*39-416_*39-415insC	XP_011510046.1:n.*39-416_*39-415insC
XM_011511750.3:c.1219-416_1219-415insC	XP_011510052.1:n.1219-416_1219-415insC
XM_011511756.2:c.854-416_854-415insC	XP_011510058.1:n.854-416_854-415insC
XM_024453102.1:c.1199-416_1199-415insC	XP_024308870.1:n.1199-416_1199-415insC
XR_001738918.2:n.1681-416_1681-415insC
XR_001738919.2:n.1615-416_1615-415insC
XR_923004.3:n.1938-416_1938-415insC
XR_923007.3:n.1648-416_1648-415insC
XR_923011.3:n.1749-416_1749-415insC
NM_152783.5:c.1307-416_1307-415insC MANE Select	NP_689996.4:n.1307-416_1307-415insC
NM_001287249.2:c.905-416_905-415insC	NP_001274178.1:n.905-416_905-415insC
NM_001352824.2:c.746-416_746-415insC	NP_001339753.1:n.746-416_746-415insC
NR_109778.2:n.1178-416_1178-415insC