Canonical Allele Identifier: CA2664133997

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241751524-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751530_241751531del , CM000664.2:g.241751530_241751531del	GRCh38
NC_000002.11:g.242690945_242690946del , CM000664.1:g.242690945_242690946del	GRCh37
NC_000002.10:g.242339618_242339619del	NCBI36
NG_012012.1:g.21916_21917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1140+142_1140+143del MANE Select	ENSP00000315351.4:n.1140+142_1140+143del
ENST00000321264.8:c.1140+142_1140+143del	ENSP00000315351.4:n.1140+142_1140+143del
ENST00000400769.6:c.854-4319_854-4318del	ENSP00000383580.2:n.854-4319_854-4318del
ENST00000403782.5:c.738+142_738+143del	ENSP00000384723.1:n.738+142_738+143del
ENST00000432449.1:c.400+142_400+143del
ENST00000436747.5:c.*1456+142_*1456+143del	ENSP00000400212.1:n.*1456+142_*1456+143del
ENST00000467427.5:n.389+1236_389+1237del
ENST00000470343.5:n.621+142_621+143del
ENST00000473126.1:n.339+142_339+143del
ENST00000486953.5:n.163+1236_163+1237del
NM_001287249.1:c.738+142_738+143del	NP_001274178.1:n.738+142_738+143del
NM_152783.4:c.1140+142_1140+143del	NP_689996.4:n.1140+142_1140+143del
NR_109778.1:n.1063-4319_1063-4318del
XM_011511734.1:c.1218+142_1218+143del	XP_011510036.1:n.1218+142_1218+143del
XM_011511735.1:c.1218+142_1218+143del	XP_011510037.1:n.1218+142_1218+143del
XM_011511736.1:c.1140+142_1140+143del	XP_011510038.1:n.1140+142_1140+143del
XM_011511737.1:c.1218+142_1218+143del	XP_011510039.1:n.1218+142_1218+143del
XM_011511742.1:c.*38+142_*38+143del	XP_011510044.1:n.*38+142_*38+143del
XM_011511743.1:c.*38+142_*38+143del	XP_011510045.1:n.*38+142_*38+143del
XM_011511744.1:c.*38+142_*38+143del	XP_011510046.1:n.*38+142_*38+143del
XM_011511745.1:c.1218+142_1218+143del	XP_011510047.1:n.1218+142_1218+143del
XM_011511748.1:c.*38+142_*38+143del	XP_011510050.1:n.*38+142_*38+143del
XM_011511749.1:c.1179+1236_1179+1237del	XP_011510051.1:n.1179+1236_1179+1237del
XM_011511750.1:c.1218+142_1218+143del	XP_011510052.1:n.1218+142_1218+143del
XM_011511751.1:c.1212+951_1212+952del	XP_011510053.1:n.1212+951_1212+952del
XM_011511753.1:c.1075+1236_1075+1237del	XP_011510055.1:n.1075+1236_1075+1237del
XM_011511754.1:c.657+142_657+143del	XP_011510056.1:n.657+142_657+143del
XM_011511755.1:c.648+142_648+143del	XP_011510057.1:n.648+142_648+143del
XM_011511756.1:c.853+6653_853+6654del	XP_011510058.1:n.853+6653_853+6654del
XR_241434.3:n.1479+142_1479+143del
XR_923003.1:n.2001+142_2001+143del
XR_923004.1:n.1772+142_1772+143del
XR_923005.1:n.1515+142_1515+143del
XR_923006.1:n.1515+142_1515+143del
XR_923007.1:n.1482+142_1482+143del
XR_923008.1:n.1378+142_1378+143del
XR_923009.1:n.1378+142_1378+143del
XR_923010.1:n.1812+142_1812+143del
XR_923011.1:n.1583+142_1583+143del
XR_923012.1:n.1517+142_1517+143del
XR_923014.1:n.1014-4319_1014-4318del
NM_001352824.1:c.579+142_579+143del	NP_001339753.1:n.579+142_579+143del
XM_011511734.2:c.1218+142_1218+143del	XP_011510036.1:n.1218+142_1218+143del
XM_011511735.2:c.1218+142_1218+143del	XP_011510037.1:n.1218+142_1218+143del
XM_011511736.2:c.1140+142_1140+143del	XP_011510038.1:n.1140+142_1140+143del
XM_011511737.3:c.1218+142_1218+143del	XP_011510039.1:n.1218+142_1218+143del
XM_011511743.2:c.*38+142_*38+143del	XP_011510045.1:n.*38+142_*38+143del
XM_011511744.2:c.*38+142_*38+143del	XP_011510046.1:n.*38+142_*38+143del
XM_011511745.3:c.1218+142_1218+143del	XP_011510047.1:n.1218+142_1218+143del
XM_011511749.3:c.1179+1236_1179+1237del	XP_011510051.1:n.1179+1236_1179+1237del
XM_011511750.3:c.1218+142_1218+143del	XP_011510052.1:n.1218+142_1218+143del
XM_011511751.2:c.1212+951_1212+952del	XP_011510053.1:n.1212+951_1212+952del
XM_011511753.3:c.1075+1236_1075+1237del	XP_011510055.1:n.1075+1236_1075+1237del
XM_011511756.2:c.853+6653_853+6654del	XP_011510058.1:n.853+6653_853+6654del
XM_017004828.2:c.1140+142_1140+143del	XP_016860317.1:n.1140+142_1140+143del
XM_017004829.2:c.*38+142_*38+143del	XP_016860318.1:n.*38+142_*38+143del
XM_017004830.2:c.1218+142_1218+143del	XP_016860319.1:n.1218+142_1218+143del
XM_024453102.1:c.990+142_990+143del	XP_024308870.1:n.990+142_990+143del
XR_001738918.2:n.1514+142_1514+143del
XR_001738919.2:n.1448+142_1448+143del
XR_002959334.1:n.2000+142_2000+143del
XR_002959335.1:n.1644+142_1644+143del
XR_241434.4:n.1478+142_1478+143del
XR_923004.3:n.1771+142_1771+143del
XR_923005.2:n.1514+142_1514+143del
XR_923007.3:n.1481+142_1481+143del
XR_923009.2:n.1377+142_1377+143del
XR_923010.2:n.1811+142_1811+143del
XR_923011.3:n.1582+142_1582+143del
XR_923012.2:n.1516+142_1516+143del
XR_923014.3:n.1013-4319_1013-4318del
NM_152783.5:c.1140+142_1140+143del MANE Select	NP_689996.4:n.1140+142_1140+143del
NM_001287249.2:c.738+142_738+143del	NP_001274178.1:n.738+142_738+143del
NM_001352824.2:c.579+142_579+143del	NP_001339753.1:n.579+142_579+143del
NR_109778.2:n.1012-4319_1012-4318del