Canonical Allele Identifier: CA1044158426

Gene: D2HGDH

Linked Data

• gnomAD v3: 2-241767515-GAAGCA-G
• gnomAD v4: 2-241767515-GAAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767516_241767520del , CM000664.2:g.241767516_241767520del	GRCh38
NC_000002.11:g.242706931_242706935del , CM000664.1:g.242706931_242706935del	GRCh37
NC_000002.10:g.242355604_242355608del	NCBI36
NG_012012.1:g.37902_37906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-194_1307-190del MANE Select	ENSP00000315351.4:n.1307-194_1307-190del
ENST00000321264.8:c.1307-194_1307-190del	ENSP00000315351.4:n.1307-194_1307-190del
ENST00000400769.6:c.*57-194_*57-190del	ENSP00000383580.2:n.*57-194_*57-190del
ENST00000403782.5:c.905-194_905-190del	ENSP00000384723.1:n.905-194_905-190del
ENST00000436747.5:c.*2543-194_*2543-190del	ENSP00000400212.1:n.*2543-194_*2543-190del
ENST00000445308.1:c.703-194_703-190del
ENST00000468064.5:n.1197-194_1197-190del
ENST00000470343.5:n.788-194_788-190del
ENST00000473126.1:n.506-194_506-190del
ENST00000486953.5:n.1134-197_1134-193del
ENST00000610344.1:c.*151-194_*151-190del	ENSP00000481906.1:n.*151-194_*151-190del
NM_001287249.1:c.905-194_905-190del	NP_001274178.1:n.905-194_905-190del
NM_152783.4:c.1307-194_1307-190del	NP_689996.4:n.1307-194_1307-190del
NR_109778.1:n.1229-194_1229-190del
XM_011511734.1:c.1427-194_1427-190del	XP_011510036.1:n.1427-194_1427-190del
XM_011511735.1:c.1385-194_1385-190del	XP_011510037.1:n.1385-194_1385-190del
XM_011511736.1:c.1349-194_1349-190del	XP_011510038.1:n.1349-194_1349-190del
XM_011511744.1:c.*39-194_*39-190del	XP_011510046.1:n.*39-194_*39-190del
XM_011511750.1:c.1219-194_1219-190del	XP_011510052.1:n.1219-194_1219-190del
XM_011511754.1:c.866-194_866-190del	XP_011510056.1:n.866-194_866-190del
XM_011511755.1:c.857-194_857-190del	XP_011510057.1:n.857-194_857-190del
XM_011511756.1:c.854-194_854-190del	XP_011510058.1:n.854-194_854-190del
XR_923004.1:n.1939-194_1939-190del
XR_923007.1:n.1649-194_1649-190del
XR_923011.1:n.1750-194_1750-190del
NM_001352824.1:c.746-194_746-190del	NP_001339753.1:n.746-194_746-190del
XM_011511734.2:c.1427-194_1427-190del	XP_011510036.1:n.1427-194_1427-190del
XM_011511735.2:c.1385-194_1385-190del	XP_011510037.1:n.1385-194_1385-190del
XM_011511736.2:c.1349-194_1349-190del	XP_011510038.1:n.1349-194_1349-190del
XM_011511744.2:c.*39-194_*39-190del	XP_011510046.1:n.*39-194_*39-190del
XM_011511750.3:c.1219-194_1219-190del	XP_011510052.1:n.1219-194_1219-190del
XM_011511756.2:c.854-194_854-190del	XP_011510058.1:n.854-194_854-190del
XM_024453102.1:c.1199-194_1199-190del	XP_024308870.1:n.1199-194_1199-190del
XR_001738918.2:n.1681-194_1681-190del
XR_001738919.2:n.1615-194_1615-190del
XR_923004.3:n.1938-194_1938-190del
XR_923007.3:n.1648-194_1648-190del
XR_923011.3:n.1749-194_1749-190del
NM_152783.5:c.1307-194_1307-190del MANE Select	NP_689996.4:n.1307-194_1307-190del
NM_001287249.2:c.905-194_905-190del	NP_001274178.1:n.905-194_905-190del
NM_001352824.2:c.746-194_746-190del	NP_001339753.1:n.746-194_746-190del
NR_109778.2:n.1178-194_1178-190del