Canonical Allele Identifier: CA2664134567

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767631-TGGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767635_241767639del , CM000664.2:g.241767635_241767639del	GRCh38
NC_000002.11:g.242707050_242707054del , CM000664.1:g.242707050_242707054del	GRCh37
NC_000002.10:g.242355723_242355727del	NCBI36
NG_012012.1:g.38021_38025del

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1307-75_1307-71del MANE Select	ENSP00000315351.4:n.1307-75_1307-71del
ENST00000321264.8:c.1307-75_1307-71del	ENSP00000315351.4:n.1307-75_1307-71del
ENST00000400769.6:c.*57-75_*57-71del	ENSP00000383580.2:n.*57-75_*57-71del
ENST00000403782.5:c.905-75_905-71del	ENSP00000384723.1:n.905-75_905-71del
ENST00000436747.5:c.*2543-75_*2543-71del	ENSP00000400212.1:n.*2543-75_*2543-71del
ENST00000445308.1:c.703-75_703-71del
ENST00000468064.5:n.1197-75_1197-71del
ENST00000470343.5:n.788-75_788-71del
ENST00000473126.1:n.506-75_506-71del
ENST00000486953.5:n.1134-78_1134-74del
ENST00000610344.1:c.*151-75_*151-71del	ENSP00000481906.1:n.*151-75_*151-71del
NM_001287249.1:c.905-75_905-71del	NP_001274178.1:n.905-75_905-71del
NM_152783.4:c.1307-75_1307-71del	NP_689996.4:n.1307-75_1307-71del
NR_109778.1:n.1229-75_1229-71del
XM_011511734.1:c.1427-75_1427-71del	XP_011510036.1:n.1427-75_1427-71del
XM_011511735.1:c.1385-75_1385-71del	XP_011510037.1:n.1385-75_1385-71del
XM_011511736.1:c.1349-75_1349-71del	XP_011510038.1:n.1349-75_1349-71del
XM_011511744.1:c.*39-75_*39-71del	XP_011510046.1:n.*39-75_*39-71del
XM_011511750.1:c.1219-75_1219-71del	XP_011510052.1:n.1219-75_1219-71del
XM_011511754.1:c.866-75_866-71del	XP_011510056.1:n.866-75_866-71del
XM_011511755.1:c.857-75_857-71del	XP_011510057.1:n.857-75_857-71del
XM_011511756.1:c.854-75_854-71del	XP_011510058.1:n.854-75_854-71del
XR_923004.1:n.1939-75_1939-71del
XR_923007.1:n.1649-75_1649-71del
XR_923011.1:n.1750-75_1750-71del
NM_001352824.1:c.746-75_746-71del	NP_001339753.1:n.746-75_746-71del
XM_011511734.2:c.1427-75_1427-71del	XP_011510036.1:n.1427-75_1427-71del
XM_011511735.2:c.1385-75_1385-71del	XP_011510037.1:n.1385-75_1385-71del
XM_011511736.2:c.1349-75_1349-71del	XP_011510038.1:n.1349-75_1349-71del
XM_011511744.2:c.*39-75_*39-71del	XP_011510046.1:n.*39-75_*39-71del
XM_011511750.3:c.1219-75_1219-71del	XP_011510052.1:n.1219-75_1219-71del
XM_011511756.2:c.854-75_854-71del	XP_011510058.1:n.854-75_854-71del
XM_024453102.1:c.1199-75_1199-71del	XP_024308870.1:n.1199-75_1199-71del
XR_001738918.2:n.1681-75_1681-71del
XR_001738919.2:n.1615-75_1615-71del
XR_923004.3:n.1938-75_1938-71del
XR_923007.3:n.1648-75_1648-71del
XR_923011.3:n.1749-75_1749-71del
NM_152783.5:c.1307-75_1307-71del MANE Select	NP_689996.4:n.1307-75_1307-71del
NM_001287249.2:c.905-75_905-71del	NP_001274178.1:n.905-75_905-71del
NM_001352824.2:c.746-75_746-71del	NP_001339753.1:n.746-75_746-71del
NR_109778.2:n.1178-75_1178-71del