Canonical Allele Identifier: CA1339784179
Gene: D2HGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767539_241767542delinsAGCG , CM000664.2:g.241767539_241767542delinsAGCG GRCh38
NC_000002.11:g.242706954_242706957delinsAGCG , CM000664.1:g.242706954_242706957delinsAGCG GRCh37
NC_000002.10:g.242355627_242355630delinsAGCG NCBI36
NG_012012.1:g.37925_37928delinsAGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1307-171_1307-168delinsAGCG MANE Select ENSP00000315351.4:n.1307-171_1307-168delinsAGCG
ENST00000321264.8:c.1307-171_1307-168delinsAGCG ENSP00000315351.4:n.1307-171_1307-168delinsAGCG
ENST00000400769.6:c.*57-171_*57-168delinsAGCG ENSP00000383580.2:n.*57-171_*57-168delinsAGCG
ENST00000403782.5:c.905-171_905-168delinsAGCG ENSP00000384723.1:n.905-171_905-168delinsAGCG
ENST00000436747.5:c.*2543-171_*2543-168delinsAGCG ENSP00000400212.1:n.*2543-171_*2543-168delinsAGCG
ENST00000445308.1:c.703-171_703-168delinsAGCG
ENST00000468064.5:n.1197-171_1197-168delinsAGCG
ENST00000470343.5:n.788-171_788-168delinsAGCG
ENST00000473126.1:n.506-171_506-168delinsAGCG
ENST00000486953.5:n.1134-174_1134-171delinsAGCG
ENST00000610344.1:c.*151-171_*151-168delinsAGCG ENSP00000481906.1:n.*151-171_*151-168delinsAGCG
NM_001287249.1:c.905-171_905-168delinsAGCG NP_001274178.1:n.905-171_905-168delinsAGCG
NM_152783.4:c.1307-171_1307-168delinsAGCG NP_689996.4:n.1307-171_1307-168delinsAGCG
NR_109778.1:n.1229-171_1229-168delinsAGCG
XM_011511734.1:c.1427-171_1427-168delinsAGCG XP_011510036.1:n.1427-171_1427-168delinsAGCG
XM_011511735.1:c.1385-171_1385-168delinsAGCG XP_011510037.1:n.1385-171_1385-168delinsAGCG
XM_011511736.1:c.1349-171_1349-168delinsAGCG XP_011510038.1:n.1349-171_1349-168delinsAGCG
XM_011511744.1:c.*39-171_*39-168delinsAGCG XP_011510046.1:n.*39-171_*39-168delinsAGCG
XM_011511750.1:c.1219-171_1219-168delinsAGCG XP_011510052.1:n.1219-171_1219-168delinsAGCG
XM_011511754.1:c.866-171_866-168delinsAGCG XP_011510056.1:n.866-171_866-168delinsAGCG
XM_011511755.1:c.857-171_857-168delinsAGCG XP_011510057.1:n.857-171_857-168delinsAGCG
XM_011511756.1:c.854-171_854-168delinsAGCG XP_011510058.1:n.854-171_854-168delinsAGCG
XR_923004.1:n.1939-171_1939-168delinsAGCG
XR_923007.1:n.1649-171_1649-168delinsAGCG
XR_923011.1:n.1750-171_1750-168delinsAGCG
NM_001352824.1:c.746-171_746-168delinsAGCG NP_001339753.1:n.746-171_746-168delinsAGCG
XM_011511734.2:c.1427-171_1427-168delinsAGCG XP_011510036.1:n.1427-171_1427-168delinsAGCG
XM_011511735.2:c.1385-171_1385-168delinsAGCG XP_011510037.1:n.1385-171_1385-168delinsAGCG
XM_011511736.2:c.1349-171_1349-168delinsAGCG XP_011510038.1:n.1349-171_1349-168delinsAGCG
XM_011511744.2:c.*39-171_*39-168delinsAGCG XP_011510046.1:n.*39-171_*39-168delinsAGCG
XM_011511750.3:c.1219-171_1219-168delinsAGCG XP_011510052.1:n.1219-171_1219-168delinsAGCG
XM_011511756.2:c.854-171_854-168delinsAGCG XP_011510058.1:n.854-171_854-168delinsAGCG
XM_024453102.1:c.1199-171_1199-168delinsAGCG XP_024308870.1:n.1199-171_1199-168delinsAGCG
XR_001738918.2:n.1681-171_1681-168delinsAGCG
XR_001738919.2:n.1615-171_1615-168delinsAGCG
XR_923004.3:n.1938-171_1938-168delinsAGCG
XR_923007.3:n.1648-171_1648-168delinsAGCG
XR_923011.3:n.1749-171_1749-168delinsAGCG
NM_152783.5:c.1307-171_1307-168delinsAGCG MANE Select NP_689996.4:n.1307-171_1307-168delinsAGCG
NM_001287249.2:c.905-171_905-168delinsAGCG NP_001274178.1:n.905-171_905-168delinsAGCG
NM_001352824.2:c.746-171_746-168delinsAGCG NP_001339753.1:n.746-171_746-168delinsAGCG
NR_109778.2:n.1178-171_1178-168delinsAGCG