Canonical Allele Identifier: CA2664134591

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767665-G-GGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767666_241767669dup , CM000664.2:g.241767666_241767669dup	GRCh38
NC_000002.11:g.242707081_242707084dup , CM000664.1:g.242707081_242707084dup	GRCh37
NC_000002.10:g.242355754_242355757dup	NCBI36
NG_012012.1:g.38052_38055dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-44_1307-41dup MANE Select	ENSP00000315351.4:n.1307-44_1307-41dup
ENST00000321264.8:c.1307-44_1307-41dup	ENSP00000315351.4:n.1307-44_1307-41dup
ENST00000400769.6:c.*57-44_*57-41dup	ENSP00000383580.2:n.*57-44_*57-41dup
ENST00000403782.5:c.905-44_905-41dup	ENSP00000384723.1:n.905-44_905-41dup
ENST00000436747.5:c.*2543-44_*2543-41dup	ENSP00000400212.1:n.*2543-44_*2543-41dup
ENST00000445308.1:c.703-44_703-41dup
ENST00000468064.5:n.1197-44_1197-41dup
ENST00000470343.5:n.788-44_788-41dup
ENST00000473126.1:n.506-44_506-41dup
ENST00000486953.5:n.1134-47_1134-44dup
ENST00000610344.1:c.*151-44_*151-41dup	ENSP00000481906.1:n.*151-44_*151-41dup
NM_001287249.1:c.905-44_905-41dup	NP_001274178.1:n.905-44_905-41dup
NM_152783.4:c.1307-44_1307-41dup	NP_689996.4:n.1307-44_1307-41dup
NR_109778.1:n.1229-44_1229-41dup
XM_011511734.1:c.1427-44_1427-41dup	XP_011510036.1:n.1427-44_1427-41dup
XM_011511735.1:c.1385-44_1385-41dup	XP_011510037.1:n.1385-44_1385-41dup
XM_011511736.1:c.1349-44_1349-41dup	XP_011510038.1:n.1349-44_1349-41dup
XM_011511744.1:c.*39-44_*39-41dup	XP_011510046.1:n.*39-44_*39-41dup
XM_011511750.1:c.1219-44_1219-41dup	XP_011510052.1:n.1219-44_1219-41dup
XM_011511754.1:c.866-44_866-41dup	XP_011510056.1:n.866-44_866-41dup
XM_011511755.1:c.857-44_857-41dup	XP_011510057.1:n.857-44_857-41dup
XM_011511756.1:c.854-44_854-41dup	XP_011510058.1:n.854-44_854-41dup
XR_923004.1:n.1939-44_1939-41dup
XR_923007.1:n.1649-44_1649-41dup
XR_923011.1:n.1750-44_1750-41dup
NM_001352824.1:c.746-44_746-41dup	NP_001339753.1:n.746-44_746-41dup
XM_011511734.2:c.1427-44_1427-41dup	XP_011510036.1:n.1427-44_1427-41dup
XM_011511735.2:c.1385-44_1385-41dup	XP_011510037.1:n.1385-44_1385-41dup
XM_011511736.2:c.1349-44_1349-41dup	XP_011510038.1:n.1349-44_1349-41dup
XM_011511744.2:c.*39-44_*39-41dup	XP_011510046.1:n.*39-44_*39-41dup
XM_011511750.3:c.1219-44_1219-41dup	XP_011510052.1:n.1219-44_1219-41dup
XM_011511756.2:c.854-44_854-41dup	XP_011510058.1:n.854-44_854-41dup
XM_024453102.1:c.1199-44_1199-41dup	XP_024308870.1:n.1199-44_1199-41dup
XR_001738918.2:n.1681-44_1681-41dup
XR_001738919.2:n.1615-44_1615-41dup
XR_923004.3:n.1938-44_1938-41dup
XR_923007.3:n.1648-44_1648-41dup
XR_923011.3:n.1749-44_1749-41dup
NM_152783.5:c.1307-44_1307-41dup MANE Select	NP_689996.4:n.1307-44_1307-41dup
NM_001287249.2:c.905-44_905-41dup	NP_001274178.1:n.905-44_905-41dup
NM_001352824.2:c.746-44_746-41dup	NP_001339753.1:n.746-44_746-41dup
NR_109778.2:n.1178-44_1178-41dup