Canonical Allele Identifier: CA2607669518

Gene: D2HGDH

Linked Data

• gnomAD v3: 2-241767505-C-CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAG
• gnomAD v4: 2-241767505-C-CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767514_241767515insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA , CM000664.2:g.241767514_241767515insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	GRCh38
NC_000002.11:g.242706929_242706930insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA , CM000664.1:g.242706929_242706930insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	GRCh37
NC_000002.10:g.242355602_242355603insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	NCBI36
NG_012012.1:g.37900_37901insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-196_1307-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA MANE Select	ENSP00000315351.4:n.1307-196_1307-195insTGGGAGCCCCGGGCTGAGGGA...
ENST00000321264.8:c.1307-196_1307-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	ENSP00000315351.4:n.1307-196_1307-195insTGGGAGCCCCGGGCTGAGGGA...
ENST00000400769.6:c.*57-196_*57-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	ENSP00000383580.2:n.*57-196_*57-195insTGGGAGCCCCGGGCTGAGGGAGT...
ENST00000403782.5:c.905-196_905-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	ENSP00000384723.1:n.905-196_905-195insTGGGAGCCCCGGGCTGAGGGAGT...
ENST00000436747.5:c.*2543-196_*2543-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	ENSP00000400212.1:n.*2543-196_*2543-195insTGGGAGCCCCGGGCTGAGG...
ENST00000445308.1:c.703-196_703-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
ENST00000468064.5:n.1197-196_1197-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
ENST00000470343.5:n.788-196_788-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
ENST00000473126.1:n.506-196_506-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
ENST00000486953.5:n.1134-199_1134-198insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
ENST00000610344.1:c.*151-196_*151-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	ENSP00000481906.1:n.*151-196_*151-195insTGGGAGCCCCGGGCTGAGGGA...
NM_001287249.1:c.905-196_905-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	NP_001274178.1:n.905-196_905-195insTGGGAGCCCCGGGCTGAGGGAGTAGG...
NM_152783.4:c.1307-196_1307-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	NP_689996.4:n.1307-196_1307-195insTGGGAGCCCCGGGCTGAGGGAGTAGGA...
NR_109778.1:n.1229-196_1229-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
XM_011511734.1:c.1427-196_1427-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510036.1:n.1427-196_1427-195insTGGGAGCCCCGGGCTGAGGGAGTA...
XM_011511735.1:c.1385-196_1385-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510037.1:n.1385-196_1385-195insTGGGAGCCCCGGGCTGAGGGAGTA...
XM_011511736.1:c.1349-196_1349-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510038.1:n.1349-196_1349-195insTGGGAGCCCCGGGCTGAGGGAGTA...
XM_011511744.1:c.*39-196_*39-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510046.1:n.*39-196_*39-195insTGGGAGCCCCGGGCTGAGGGAGTAGG...
XM_011511750.1:c.1219-196_1219-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510052.1:n.1219-196_1219-195insTGGGAGCCCCGGGCTGAGGGAGTA...
XM_011511754.1:c.866-196_866-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510056.1:n.866-196_866-195insTGGGAGCCCCGGGCTGAGGGAGTAGG...
XM_011511755.1:c.857-196_857-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510057.1:n.857-196_857-195insTGGGAGCCCCGGGCTGAGGGAGTAGG...
XM_011511756.1:c.854-196_854-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510058.1:n.854-196_854-195insTGGGAGCCCCGGGCTGAGGGAGTAGG...
XR_923004.1:n.1939-196_1939-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
XR_923007.1:n.1649-196_1649-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
XR_923011.1:n.1750-196_1750-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
NM_001352824.1:c.746-196_746-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	NP_001339753.1:n.746-196_746-195insTGGGAGCCCCGGGCTGAGGGAGTAGG...
XM_011511734.2:c.1427-196_1427-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510036.1:n.1427-196_1427-195insTGGGAGCCCCGGGCTGAGGGAGTA...
XM_011511735.2:c.1385-196_1385-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510037.1:n.1385-196_1385-195insTGGGAGCCCCGGGCTGAGGGAGTA...
XM_011511736.2:c.1349-196_1349-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510038.1:n.1349-196_1349-195insTGGGAGCCCCGGGCTGAGGGAGTA...
XM_011511744.2:c.*39-196_*39-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510046.1:n.*39-196_*39-195insTGGGAGCCCCGGGCTGAGGGAGTAGG...
XM_011511750.3:c.1219-196_1219-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510052.1:n.1219-196_1219-195insTGGGAGCCCCGGGCTGAGGGAGTA...
XM_011511756.2:c.854-196_854-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_011510058.1:n.854-196_854-195insTGGGAGCCCCGGGCTGAGGGAGTAGG...
XM_024453102.1:c.1199-196_1199-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	XP_024308870.1:n.1199-196_1199-195insTGGGAGCCCCGGGCTGAGGGAGTA...
XR_001738918.2:n.1681-196_1681-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
XR_001738919.2:n.1615-196_1615-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
XR_923004.3:n.1938-196_1938-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
XR_923007.3:n.1648-196_1648-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
XR_923011.3:n.1749-196_1749-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA
NM_152783.5:c.1307-196_1307-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA MANE Select	NP_689996.4:n.1307-196_1307-195insTGGGAGCCCCGGGCTGAGGGAGTAGGA...
NM_001287249.2:c.905-196_905-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	NP_001274178.1:n.905-196_905-195insTGGGAGCCCCGGGCTGAGGGAGTAGG...
NM_001352824.2:c.746-196_746-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA	NP_001339753.1:n.746-196_746-195insTGGGAGCCCCGGGCTGAGGGAGTAGG...
NR_109778.2:n.1178-196_1178-195insTGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGAGAAGTTGGGGAGA