Canonical Allele Identifier: CA2664133861

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241751216-GCTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751220_241751223del , CM000664.2:g.241751220_241751223del	GRCh38
NC_000002.11:g.242690635_242690638del , CM000664.1:g.242690635_242690638del	GRCh37
NC_000002.10:g.242339308_242339311del	NCBI36
NG_012012.1:g.21606_21609del

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.998-26_998-23del MANE Select	ENSP00000315351.4:n.998-26_998-23del
ENST00000321264.8:c.998-26_998-23del	ENSP00000315351.4:n.998-26_998-23del
ENST00000400769.6:c.854-4629_854-4626del	ENSP00000383580.2:n.854-4629_854-4626del
ENST00000403782.5:c.596-26_596-23del	ENSP00000384723.1:n.596-26_596-23del
ENST00000432449.1:c.258-26_258-23del
ENST00000436747.5:c.*1314-26_*1314-23del	ENSP00000400212.1:n.*1314-26_*1314-23del
ENST00000454048.1:c.101-26_101-23del	ENSP00000404596.1:n.101-26_101-23del
ENST00000467427.5:n.389+926_389+929del
ENST00000470343.5:n.479-26_479-23del
ENST00000473126.1:n.197-26_197-23del
ENST00000486953.5:n.163+926_163+929del
ENST00000496252.5:n.353-26_353-23del
NM_001287249.1:c.596-26_596-23del	NP_001274178.1:n.596-26_596-23del
NM_152783.4:c.998-26_998-23del	NP_689996.4:n.998-26_998-23del
NR_109778.1:n.1063-4629_1063-4626del
XM_011511734.1:c.1076-26_1076-23del	XP_011510036.1:n.1076-26_1076-23del
XM_011511735.1:c.1076-26_1076-23del	XP_011510037.1:n.1076-26_1076-23del
XM_011511736.1:c.998-26_998-23del	XP_011510038.1:n.998-26_998-23del
XM_011511737.1:c.1076-26_1076-23del	XP_011510039.1:n.1076-26_1076-23del
XM_011511742.1:c.1213-26_1213-23del	XP_011510044.1:n.1213-26_1213-23del
XM_011511743.1:c.1213-26_1213-23del	XP_011510045.1:n.1213-26_1213-23del
XM_011511744.1:c.1213-26_1213-23del	XP_011510046.1:n.1213-26_1213-23del
XM_011511745.1:c.1076-26_1076-23del	XP_011510047.1:n.1076-26_1076-23del
XM_011511748.1:c.1147-26_1147-23del	XP_011510050.1:n.1147-26_1147-23del
XM_011511749.1:c.1179+926_1179+929del	XP_011510051.1:n.1179+926_1179+929del
XM_011511750.1:c.1076-26_1076-23del	XP_011510052.1:n.1076-26_1076-23del
XM_011511751.1:c.1212+641_1212+644del	XP_011510053.1:n.1212+641_1212+644del
XM_011511753.1:c.1075+926_1075+929del	XP_011510055.1:n.1075+926_1075+929del
XM_011511754.1:c.515-26_515-23del	XP_011510056.1:n.515-26_515-23del
XM_011511755.1:c.506-26_506-23del	XP_011510057.1:n.506-26_506-23del
XM_011511756.1:c.853+6343_853+6346del	XP_011510058.1:n.853+6343_853+6346del
XM_011511757.1:c.*14-26_*14-23del	XP_011510059.1:n.*14-26_*14-23del
XR_241434.3:n.1337-26_1337-23del
XR_923003.1:n.1859-26_1859-23del
XR_923004.1:n.1630-26_1630-23del
XR_923005.1:n.1373-26_1373-23del
XR_923006.1:n.1373-26_1373-23del
XR_923007.1:n.1340-26_1340-23del
XR_923008.1:n.1236-26_1236-23del
XR_923009.1:n.1236-26_1236-23del
XR_923010.1:n.1670-26_1670-23del
XR_923011.1:n.1441-26_1441-23del
XR_923012.1:n.1375-26_1375-23del
XR_923014.1:n.1014-4629_1014-4626del
NM_001352824.1:c.437-26_437-23del	NP_001339753.1:n.437-26_437-23del
XM_011511734.2:c.1076-26_1076-23del	XP_011510036.1:n.1076-26_1076-23del
XM_011511735.2:c.1076-26_1076-23del	XP_011510037.1:n.1076-26_1076-23del
XM_011511736.2:c.998-26_998-23del	XP_011510038.1:n.998-26_998-23del
XM_011511737.3:c.1076-26_1076-23del	XP_011510039.1:n.1076-26_1076-23del
XM_011511743.2:c.1213-26_1213-23del	XP_011510045.1:n.1213-26_1213-23del
XM_011511744.2:c.1213-26_1213-23del	XP_011510046.1:n.1213-26_1213-23del
XM_011511745.3:c.1076-26_1076-23del	XP_011510047.1:n.1076-26_1076-23del
XM_011511749.3:c.1179+926_1179+929del	XP_011510051.1:n.1179+926_1179+929del
XM_011511750.3:c.1076-26_1076-23del	XP_011510052.1:n.1076-26_1076-23del
XM_011511751.2:c.1212+641_1212+644del	XP_011510053.1:n.1212+641_1212+644del
XM_011511753.3:c.1075+926_1075+929del	XP_011510055.1:n.1075+926_1075+929del
XM_011511756.2:c.853+6343_853+6346del	XP_011510058.1:n.853+6343_853+6346del
XM_011511757.3:c.*14-26_*14-23del	XP_011510059.1:n.*14-26_*14-23del
XM_017004828.2:c.998-26_998-23del	XP_016860317.1:n.998-26_998-23del
XM_017004829.2:c.1213-26_1213-23del	XP_016860318.1:n.1213-26_1213-23del
XM_017004830.2:c.1076-26_1076-23del	XP_016860319.1:n.1076-26_1076-23del
XM_024453102.1:c.848-26_848-23del	XP_024308870.1:n.848-26_848-23del
XR_001738918.2:n.1372-26_1372-23del
XR_001738919.2:n.1306-26_1306-23del
XR_002959334.1:n.1858-26_1858-23del
XR_002959335.1:n.1502-26_1502-23del
XR_241434.4:n.1336-26_1336-23del
XR_923004.3:n.1629-26_1629-23del
XR_923005.2:n.1372-26_1372-23del
XR_923007.3:n.1339-26_1339-23del
XR_923009.2:n.1235-26_1235-23del
XR_923010.2:n.1669-26_1669-23del
XR_923011.3:n.1440-26_1440-23del
XR_923012.2:n.1374-26_1374-23del
XR_923014.3:n.1013-4629_1013-4626del
NM_152783.5:c.998-26_998-23del MANE Select	NP_689996.4:n.998-26_998-23del
NM_001287249.2:c.596-26_596-23del	NP_001274178.1:n.596-26_596-23del
NM_001352824.2:c.437-26_437-23del	NP_001339753.1:n.437-26_437-23del
NR_109778.2:n.1012-4629_1012-4626del