Canonical Allele Identifier: CA1044158363
Gene: D2HGDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767423_241767424insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC , CM000664.2:g.241767423_241767424insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC GRCh38
NC_000002.11:g.242706838_242706839insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC , CM000664.1:g.242706838_242706839insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC GRCh37
NC_000002.10:g.242355511_242355512insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC NCBI36
NG_012012.1:g.37809_37810insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1307-287_1307-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC MANE Select ENSP00000315351.4:n.1307-287_1307-286insTGGGCTGAGGGAGTAGGAAGA...
ENST00000321264.8:c.1307-287_1307-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC ENSP00000315351.4:n.1307-287_1307-286insTGGGCTGAGGGAGTAGGAAGA...
ENST00000400769.6:c.*57-287_*57-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC ENSP00000383580.2:n.*57-287_*57-286insTGGGCTGAGGGAGTAGGAAGAGG...
ENST00000403782.5:c.905-287_905-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC ENSP00000384723.1:n.905-287_905-286insTGGGCTGAGGGAGTAGGAAGAGG...
ENST00000436747.5:c.*2543-287_*2543-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC ENSP00000400212.1:n.*2543-287_*2543-286insTGGGCTGAGGGAGTAGGAA...
ENST00000445308.1:c.703-287_703-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
ENST00000468064.5:n.1197-287_1197-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
ENST00000470343.5:n.788-287_788-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
ENST00000473126.1:n.506-287_506-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
ENST00000486953.5:n.1134-290_1134-289insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
ENST00000610344.1:c.*151-287_*151-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC ENSP00000481906.1:n.*151-287_*151-286insTGGGCTGAGGGAGTAGGAAGA...
NM_001287249.1:c.905-287_905-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC NP_001274178.1:n.905-287_905-286insTGGGCTGAGGGAGTAGGAAGAGGGGG...
NM_152783.4:c.1307-287_1307-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC NP_689996.4:n.1307-287_1307-286insTGGGCTGAGGGAGTAGGAAGAGGGGGG...
NR_109778.1:n.1229-287_1229-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
XM_011511734.1:c.1427-287_1427-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510036.1:n.1427-287_1427-286insTGGGCTGAGGGAGTAGGAAGAGGG...
XM_011511735.1:c.1385-287_1385-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510037.1:n.1385-287_1385-286insTGGGCTGAGGGAGTAGGAAGAGGG...
XM_011511736.1:c.1349-287_1349-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510038.1:n.1349-287_1349-286insTGGGCTGAGGGAGTAGGAAGAGGG...
XM_011511744.1:c.*39-287_*39-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510046.1:n.*39-287_*39-286insTGGGCTGAGGGAGTAGGAAGAGGGGG...
XM_011511750.1:c.1219-287_1219-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510052.1:n.1219-287_1219-286insTGGGCTGAGGGAGTAGGAAGAGGG...
XM_011511754.1:c.866-287_866-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510056.1:n.866-287_866-286insTGGGCTGAGGGAGTAGGAAGAGGGGG...
XM_011511755.1:c.857-287_857-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510057.1:n.857-287_857-286insTGGGCTGAGGGAGTAGGAAGAGGGGG...
XM_011511756.1:c.854-287_854-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510058.1:n.854-287_854-286insTGGGCTGAGGGAGTAGGAAGAGGGGG...
XR_923004.1:n.1939-287_1939-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
XR_923007.1:n.1649-287_1649-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
XR_923011.1:n.1750-287_1750-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
NM_001352824.1:c.746-287_746-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC NP_001339753.1:n.746-287_746-286insTGGGCTGAGGGAGTAGGAAGAGGGGG...
XM_011511734.2:c.1427-287_1427-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510036.1:n.1427-287_1427-286insTGGGCTGAGGGAGTAGGAAGAGGG...
XM_011511735.2:c.1385-287_1385-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510037.1:n.1385-287_1385-286insTGGGCTGAGGGAGTAGGAAGAGGG...
XM_011511736.2:c.1349-287_1349-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510038.1:n.1349-287_1349-286insTGGGCTGAGGGAGTAGGAAGAGGG...
XM_011511744.2:c.*39-287_*39-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510046.1:n.*39-287_*39-286insTGGGCTGAGGGAGTAGGAAGAGGGGG...
XM_011511750.3:c.1219-287_1219-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510052.1:n.1219-287_1219-286insTGGGCTGAGGGAGTAGGAAGAGGG...
XM_011511756.2:c.854-287_854-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_011510058.1:n.854-287_854-286insTGGGCTGAGGGAGTAGGAAGAGGGGG...
XM_024453102.1:c.1199-287_1199-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC XP_024308870.1:n.1199-287_1199-286insTGGGCTGAGGGAGTAGGAAGAGGG...
XR_001738918.2:n.1681-287_1681-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
XR_001738919.2:n.1615-287_1615-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
XR_923004.3:n.1938-287_1938-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
XR_923007.3:n.1648-287_1648-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
XR_923011.3:n.1749-287_1749-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC
NM_152783.5:c.1307-287_1307-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC MANE Select NP_689996.4:n.1307-287_1307-286insTGGGCTGAGGGAGTAGGAAGAGGGGGG...
NM_001287249.2:c.905-287_905-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC NP_001274178.1:n.905-287_905-286insTGGGCTGAGGGAGTAGGAAGAGGGGG...
NM_001352824.2:c.746-287_746-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC NP_001339753.1:n.746-287_746-286insTGGGCTGAGGGAGTAGGAAGAGGGGG...
NR_109778.2:n.1178-287_1178-286insTGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC