Canonical Allele Identifier: CA2754920306

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767666_241767676del , CM000664.2:g.241767666_241767676del	GRCh38
NC_000002.11:g.242707081_242707091del , CM000664.1:g.242707081_242707091del	GRCh37
NC_000002.10:g.242355754_242355764del	NCBI36
NG_012012.1:g.38052_38062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-44_1307-34del MANE Select	ENSP00000315351.4:n.1307-44_1307-34del
ENST00000321264.8:c.1307-44_1307-34del	ENSP00000315351.4:n.1307-44_1307-34del
ENST00000400769.6:c.*57-44_*57-34del	ENSP00000383580.2:n.*57-44_*57-34del
ENST00000403782.5:c.905-44_905-34del	ENSP00000384723.1:n.905-44_905-34del
ENST00000436747.5:c.*2543-44_*2543-34del	ENSP00000400212.1:n.*2543-44_*2543-34del
ENST00000445308.1:c.703-44_703-34del
ENST00000468064.5:n.1197-44_1197-34del
ENST00000470343.5:n.788-44_788-34del
ENST00000473126.1:n.506-44_506-34del
ENST00000486953.5:n.1134-47_1134-37del
ENST00000610344.1:c.*151-44_*151-34del	ENSP00000481906.1:n.*151-44_*151-34del
NM_001287249.1:c.905-44_905-34del	NP_001274178.1:n.905-44_905-34del
NM_152783.4:c.1307-44_1307-34del	NP_689996.4:n.1307-44_1307-34del
NR_109778.1:n.1229-44_1229-34del
XM_011511734.1:c.1427-44_1427-34del	XP_011510036.1:n.1427-44_1427-34del
XM_011511735.1:c.1385-44_1385-34del	XP_011510037.1:n.1385-44_1385-34del
XM_011511736.1:c.1349-44_1349-34del	XP_011510038.1:n.1349-44_1349-34del
XM_011511744.1:c.*39-44_*39-34del	XP_011510046.1:n.*39-44_*39-34del
XM_011511750.1:c.1219-44_1219-34del	XP_011510052.1:n.1219-44_1219-34del
XM_011511754.1:c.866-44_866-34del	XP_011510056.1:n.866-44_866-34del
XM_011511755.1:c.857-44_857-34del	XP_011510057.1:n.857-44_857-34del
XM_011511756.1:c.854-44_854-34del	XP_011510058.1:n.854-44_854-34del
XR_923004.1:n.1939-44_1939-34del
XR_923007.1:n.1649-44_1649-34del
XR_923011.1:n.1750-44_1750-34del
NM_001352824.1:c.746-44_746-34del	NP_001339753.1:n.746-44_746-34del
XM_011511734.2:c.1427-44_1427-34del	XP_011510036.1:n.1427-44_1427-34del
XM_011511735.2:c.1385-44_1385-34del	XP_011510037.1:n.1385-44_1385-34del
XM_011511736.2:c.1349-44_1349-34del	XP_011510038.1:n.1349-44_1349-34del
XM_011511744.2:c.*39-44_*39-34del	XP_011510046.1:n.*39-44_*39-34del
XM_011511750.3:c.1219-44_1219-34del	XP_011510052.1:n.1219-44_1219-34del
XM_011511756.2:c.854-44_854-34del	XP_011510058.1:n.854-44_854-34del
XM_024453102.1:c.1199-44_1199-34del	XP_024308870.1:n.1199-44_1199-34del
XR_001738918.2:n.1681-44_1681-34del
XR_001738919.2:n.1615-44_1615-34del
XR_923004.3:n.1938-44_1938-34del
XR_923007.3:n.1648-44_1648-34del
XR_923011.3:n.1749-44_1749-34del
NM_152783.5:c.1307-44_1307-34del MANE Select	NP_689996.4:n.1307-44_1307-34del
NM_001287249.2:c.905-44_905-34del	NP_001274178.1:n.905-44_905-34del
NM_001352824.2:c.746-44_746-34del	NP_001339753.1:n.746-44_746-34del
NR_109778.2:n.1178-44_1178-34del