Canonical Allele Identifier: CA1339784159

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767510_241767514delinsGGAGA , CM000664.2:g.241767510_241767514delinsGGAGA	GRCh38
NC_000002.11:g.242706925_242706929delinsGGAGA , CM000664.1:g.242706925_242706929delinsGGAGA	GRCh37
NC_000002.10:g.242355598_242355602delinsGGAGA	NCBI36
NG_012012.1:g.37896_37900delinsGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-200_1307-196delinsGGAGA MANE Select	ENSP00000315351.4:n.1307-200_1307-196delinsGGAGA
ENST00000321264.8:c.1307-200_1307-196delinsGGAGA	ENSP00000315351.4:n.1307-200_1307-196delinsGGAGA
ENST00000400769.6:c.*57-200_*57-196delinsGGAGA	ENSP00000383580.2:n.*57-200_*57-196delinsGGAGA
ENST00000403782.5:c.905-200_905-196delinsGGAGA	ENSP00000384723.1:n.905-200_905-196delinsGGAGA
ENST00000436747.5:c.*2543-200_*2543-196delinsGGAGA	ENSP00000400212.1:n.*2543-200_*2543-196delinsGGAGA
ENST00000445308.1:c.703-200_703-196delinsGGAGA
ENST00000468064.5:n.1197-200_1197-196delinsGGAGA
ENST00000470343.5:n.788-200_788-196delinsGGAGA
ENST00000473126.1:n.506-200_506-196delinsGGAGA
ENST00000486953.5:n.1134-203_1134-199delinsGGAGA
ENST00000610344.1:c.*151-200_*151-196delinsGGAGA	ENSP00000481906.1:n.*151-200_*151-196delinsGGAGA
NM_001287249.1:c.905-200_905-196delinsGGAGA	NP_001274178.1:n.905-200_905-196delinsGGAGA
NM_152783.4:c.1307-200_1307-196delinsGGAGA	NP_689996.4:n.1307-200_1307-196delinsGGAGA
NR_109778.1:n.1229-200_1229-196delinsGGAGA
XM_011511734.1:c.1427-200_1427-196delinsGGAGA	XP_011510036.1:n.1427-200_1427-196delinsGGAGA
XM_011511735.1:c.1385-200_1385-196delinsGGAGA	XP_011510037.1:n.1385-200_1385-196delinsGGAGA
XM_011511736.1:c.1349-200_1349-196delinsGGAGA	XP_011510038.1:n.1349-200_1349-196delinsGGAGA
XM_011511744.1:c.*39-200_*39-196delinsGGAGA	XP_011510046.1:n.*39-200_*39-196delinsGGAGA
XM_011511750.1:c.1219-200_1219-196delinsGGAGA	XP_011510052.1:n.1219-200_1219-196delinsGGAGA
XM_011511754.1:c.866-200_866-196delinsGGAGA	XP_011510056.1:n.866-200_866-196delinsGGAGA
XM_011511755.1:c.857-200_857-196delinsGGAGA	XP_011510057.1:n.857-200_857-196delinsGGAGA
XM_011511756.1:c.854-200_854-196delinsGGAGA	XP_011510058.1:n.854-200_854-196delinsGGAGA
XR_923004.1:n.1939-200_1939-196delinsGGAGA
XR_923007.1:n.1649-200_1649-196delinsGGAGA
XR_923011.1:n.1750-200_1750-196delinsGGAGA
NM_001352824.1:c.746-200_746-196delinsGGAGA	NP_001339753.1:n.746-200_746-196delinsGGAGA
XM_011511734.2:c.1427-200_1427-196delinsGGAGA	XP_011510036.1:n.1427-200_1427-196delinsGGAGA
XM_011511735.2:c.1385-200_1385-196delinsGGAGA	XP_011510037.1:n.1385-200_1385-196delinsGGAGA
XM_011511736.2:c.1349-200_1349-196delinsGGAGA	XP_011510038.1:n.1349-200_1349-196delinsGGAGA
XM_011511744.2:c.*39-200_*39-196delinsGGAGA	XP_011510046.1:n.*39-200_*39-196delinsGGAGA
XM_011511750.3:c.1219-200_1219-196delinsGGAGA	XP_011510052.1:n.1219-200_1219-196delinsGGAGA
XM_011511756.2:c.854-200_854-196delinsGGAGA	XP_011510058.1:n.854-200_854-196delinsGGAGA
XM_024453102.1:c.1199-200_1199-196delinsGGAGA	XP_024308870.1:n.1199-200_1199-196delinsGGAGA
XR_001738918.2:n.1681-200_1681-196delinsGGAGA
XR_001738919.2:n.1615-200_1615-196delinsGGAGA
XR_923004.3:n.1938-200_1938-196delinsGGAGA
XR_923007.3:n.1648-200_1648-196delinsGGAGA
XR_923011.3:n.1749-200_1749-196delinsGGAGA
NM_152783.5:c.1307-200_1307-196delinsGGAGA MANE Select	NP_689996.4:n.1307-200_1307-196delinsGGAGA
NM_001287249.2:c.905-200_905-196delinsGGAGA	NP_001274178.1:n.905-200_905-196delinsGGAGA
NM_001352824.2:c.746-200_746-196delinsGGAGA	NP_001339753.1:n.746-200_746-196delinsGGAGA
NR_109778.2:n.1178-200_1178-196delinsGGAGA