Canonical Allele Identifier: CA2664134553

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767617-TGGGGAGGGGATCTTGGGAGGGGCTGTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767625_241767652del , CM000664.2:g.241767625_241767652del	GRCh38
NC_000002.11:g.242707040_242707067del , CM000664.1:g.242707040_242707067del	GRCh37
NC_000002.10:g.242355713_242355740del	NCBI36
NG_012012.1:g.38011_38038del

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1307-85_1307-58del MANE Select	ENSP00000315351.4:n.1307-85_1307-58del
ENST00000321264.8:c.1307-85_1307-58del	ENSP00000315351.4:n.1307-85_1307-58del
ENST00000400769.6:c.*57-85_*57-58del	ENSP00000383580.2:n.*57-85_*57-58del
ENST00000403782.5:c.905-85_905-58del	ENSP00000384723.1:n.905-85_905-58del
ENST00000436747.5:c.*2543-85_*2543-58del	ENSP00000400212.1:n.*2543-85_*2543-58del
ENST00000445308.1:c.703-85_703-58del
ENST00000468064.5:n.1197-85_1197-58del
ENST00000470343.5:n.788-85_788-58del
ENST00000473126.1:n.506-85_506-58del
ENST00000486953.5:n.1134-88_1134-61del
ENST00000610344.1:c.*151-85_*151-58del	ENSP00000481906.1:n.*151-85_*151-58del
NM_001287249.1:c.905-85_905-58del	NP_001274178.1:n.905-85_905-58del
NM_152783.4:c.1307-85_1307-58del	NP_689996.4:n.1307-85_1307-58del
NR_109778.1:n.1229-85_1229-58del
XM_011511734.1:c.1427-85_1427-58del	XP_011510036.1:n.1427-85_1427-58del
XM_011511735.1:c.1385-85_1385-58del	XP_011510037.1:n.1385-85_1385-58del
XM_011511736.1:c.1349-85_1349-58del	XP_011510038.1:n.1349-85_1349-58del
XM_011511744.1:c.*39-85_*39-58del	XP_011510046.1:n.*39-85_*39-58del
XM_011511750.1:c.1219-85_1219-58del	XP_011510052.1:n.1219-85_1219-58del
XM_011511754.1:c.866-85_866-58del	XP_011510056.1:n.866-85_866-58del
XM_011511755.1:c.857-85_857-58del	XP_011510057.1:n.857-85_857-58del
XM_011511756.1:c.854-85_854-58del	XP_011510058.1:n.854-85_854-58del
XR_923004.1:n.1939-85_1939-58del
XR_923007.1:n.1649-85_1649-58del
XR_923011.1:n.1750-85_1750-58del
NM_001352824.1:c.746-85_746-58del	NP_001339753.1:n.746-85_746-58del
XM_011511734.2:c.1427-85_1427-58del	XP_011510036.1:n.1427-85_1427-58del
XM_011511735.2:c.1385-85_1385-58del	XP_011510037.1:n.1385-85_1385-58del
XM_011511736.2:c.1349-85_1349-58del	XP_011510038.1:n.1349-85_1349-58del
XM_011511744.2:c.*39-85_*39-58del	XP_011510046.1:n.*39-85_*39-58del
XM_011511750.3:c.1219-85_1219-58del	XP_011510052.1:n.1219-85_1219-58del
XM_011511756.2:c.854-85_854-58del	XP_011510058.1:n.854-85_854-58del
XM_024453102.1:c.1199-85_1199-58del	XP_024308870.1:n.1199-85_1199-58del
XR_001738918.2:n.1681-85_1681-58del
XR_001738919.2:n.1615-85_1615-58del
XR_923004.3:n.1938-85_1938-58del
XR_923007.3:n.1648-85_1648-58del
XR_923011.3:n.1749-85_1749-58del
NM_152783.5:c.1307-85_1307-58del MANE Select	NP_689996.4:n.1307-85_1307-58del
NM_001287249.2:c.905-85_905-58del	NP_001274178.1:n.905-85_905-58del
NM_001352824.2:c.746-85_746-58del	NP_001339753.1:n.746-85_746-58del
NR_109778.2:n.1178-85_1178-58del