Canonical Allele Identifier: CA1044158428

Gene: D2HGDH

Linked Data

• gnomAD v3: 2-241767519-C-CCCCGGGCTG
• gnomAD v4: 2-241767519-C-CCCCGGGCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767519_241767520insCCCGGGCTG , CM000664.2:g.241767519_241767520insCCCGGGCTG	GRCh38
NC_000002.11:g.242706934_242706935insCCCGGGCTG , CM000664.1:g.242706934_242706935insCCCGGGCTG	GRCh37
NC_000002.10:g.242355607_242355608insCCCGGGCTG	NCBI36
NG_012012.1:g.37905_37906insCCCGGGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-191_1307-190insCCCGGGCTG MANE Select	ENSP00000315351.4:n.1307-191_1307-190insCCCGGGCTG
ENST00000321264.8:c.1307-191_1307-190insCCCGGGCTG	ENSP00000315351.4:n.1307-191_1307-190insCCCGGGCTG
ENST00000400769.6:c.*57-191_*57-190insCCCGGGCTG	ENSP00000383580.2:n.*57-191_*57-190insCCCGGGCTG
ENST00000403782.5:c.905-191_905-190insCCCGGGCTG	ENSP00000384723.1:n.905-191_905-190insCCCGGGCTG
ENST00000436747.5:c.*2543-191_*2543-190insCCCGGGCTG	ENSP00000400212.1:n.*2543-191_*2543-190insCCCGGGCTG
ENST00000445308.1:c.703-191_703-190insCCCGGGCTG
ENST00000468064.5:n.1197-191_1197-190insCCCGGGCTG
ENST00000470343.5:n.788-191_788-190insCCCGGGCTG
ENST00000473126.1:n.506-191_506-190insCCCGGGCTG
ENST00000486953.5:n.1134-194_1134-193insCCCGGGCTG
ENST00000610344.1:c.*151-191_*151-190insCCCGGGCTG	ENSP00000481906.1:n.*151-191_*151-190insCCCGGGCTG
NM_001287249.1:c.905-191_905-190insCCCGGGCTG	NP_001274178.1:n.905-191_905-190insCCCGGGCTG
NM_152783.4:c.1307-191_1307-190insCCCGGGCTG	NP_689996.4:n.1307-191_1307-190insCCCGGGCTG
NR_109778.1:n.1229-191_1229-190insCCCGGGCTG
XM_011511734.1:c.1427-191_1427-190insCCCGGGCTG	XP_011510036.1:n.1427-191_1427-190insCCCGGGCTG
XM_011511735.1:c.1385-191_1385-190insCCCGGGCTG	XP_011510037.1:n.1385-191_1385-190insCCCGGGCTG
XM_011511736.1:c.1349-191_1349-190insCCCGGGCTG	XP_011510038.1:n.1349-191_1349-190insCCCGGGCTG
XM_011511744.1:c.*39-191_*39-190insCCCGGGCTG	XP_011510046.1:n.*39-191_*39-190insCCCGGGCTG
XM_011511750.1:c.1219-191_1219-190insCCCGGGCTG	XP_011510052.1:n.1219-191_1219-190insCCCGGGCTG
XM_011511754.1:c.866-191_866-190insCCCGGGCTG	XP_011510056.1:n.866-191_866-190insCCCGGGCTG
XM_011511755.1:c.857-191_857-190insCCCGGGCTG	XP_011510057.1:n.857-191_857-190insCCCGGGCTG
XM_011511756.1:c.854-191_854-190insCCCGGGCTG	XP_011510058.1:n.854-191_854-190insCCCGGGCTG
XR_923004.1:n.1939-191_1939-190insCCCGGGCTG
XR_923007.1:n.1649-191_1649-190insCCCGGGCTG
XR_923011.1:n.1750-191_1750-190insCCCGGGCTG
NM_001352824.1:c.746-191_746-190insCCCGGGCTG	NP_001339753.1:n.746-191_746-190insCCCGGGCTG
XM_011511734.2:c.1427-191_1427-190insCCCGGGCTG	XP_011510036.1:n.1427-191_1427-190insCCCGGGCTG
XM_011511735.2:c.1385-191_1385-190insCCCGGGCTG	XP_011510037.1:n.1385-191_1385-190insCCCGGGCTG
XM_011511736.2:c.1349-191_1349-190insCCCGGGCTG	XP_011510038.1:n.1349-191_1349-190insCCCGGGCTG
XM_011511744.2:c.*39-191_*39-190insCCCGGGCTG	XP_011510046.1:n.*39-191_*39-190insCCCGGGCTG
XM_011511750.3:c.1219-191_1219-190insCCCGGGCTG	XP_011510052.1:n.1219-191_1219-190insCCCGGGCTG
XM_011511756.2:c.854-191_854-190insCCCGGGCTG	XP_011510058.1:n.854-191_854-190insCCCGGGCTG
XM_024453102.1:c.1199-191_1199-190insCCCGGGCTG	XP_024308870.1:n.1199-191_1199-190insCCCGGGCTG
XR_001738918.2:n.1681-191_1681-190insCCCGGGCTG
XR_001738919.2:n.1615-191_1615-190insCCCGGGCTG
XR_923004.3:n.1938-191_1938-190insCCCGGGCTG
XR_923007.3:n.1648-191_1648-190insCCCGGGCTG
XR_923011.3:n.1749-191_1749-190insCCCGGGCTG
NM_152783.5:c.1307-191_1307-190insCCCGGGCTG MANE Select	NP_689996.4:n.1307-191_1307-190insCCCGGGCTG
NM_001287249.2:c.905-191_905-190insCCCGGGCTG	NP_001274178.1:n.905-191_905-190insCCCGGGCTG
NM_001352824.2:c.746-191_746-190insCCCGGGCTG	NP_001339753.1:n.746-191_746-190insCCCGGGCTG
NR_109778.2:n.1178-191_1178-190insCCCGGGCTG