Canonical Allele Identifier: CA1339784180

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1699244774

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767542_241767544del , CM000664.2:g.241767542_241767544del	GRCh38
NC_000002.11:g.242706957_242706959del , CM000664.1:g.242706957_242706959del	GRCh37
NC_000002.10:g.242355630_242355632del	NCBI36
NG_012012.1:g.37928_37930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-168_1307-166del MANE Select	ENSP00000315351.4:n.1307-168_1307-166del
ENST00000321264.8:c.1307-168_1307-166del	ENSP00000315351.4:n.1307-168_1307-166del
ENST00000400769.6:c.*57-168_*57-166del	ENSP00000383580.2:n.*57-168_*57-166del
ENST00000403782.5:c.905-168_905-166del	ENSP00000384723.1:n.905-168_905-166del
ENST00000436747.5:c.*2543-168_*2543-166del	ENSP00000400212.1:n.*2543-168_*2543-166del
ENST00000445308.1:c.703-168_703-166del
ENST00000468064.5:n.1197-168_1197-166del
ENST00000470343.5:n.788-168_788-166del
ENST00000473126.1:n.506-168_506-166del
ENST00000486953.5:n.1134-171_1134-169del
ENST00000610344.1:c.*151-168_*151-166del	ENSP00000481906.1:n.*151-168_*151-166del
NM_001287249.1:c.905-168_905-166del	NP_001274178.1:n.905-168_905-166del
NM_152783.4:c.1307-168_1307-166del	NP_689996.4:n.1307-168_1307-166del
NR_109778.1:n.1229-168_1229-166del
XM_011511734.1:c.1427-168_1427-166del	XP_011510036.1:n.1427-168_1427-166del
XM_011511735.1:c.1385-168_1385-166del	XP_011510037.1:n.1385-168_1385-166del
XM_011511736.1:c.1349-168_1349-166del	XP_011510038.1:n.1349-168_1349-166del
XM_011511744.1:c.*39-168_*39-166del	XP_011510046.1:n.*39-168_*39-166del
XM_011511750.1:c.1219-168_1219-166del	XP_011510052.1:n.1219-168_1219-166del
XM_011511754.1:c.866-168_866-166del	XP_011510056.1:n.866-168_866-166del
XM_011511755.1:c.857-168_857-166del	XP_011510057.1:n.857-168_857-166del
XM_011511756.1:c.854-168_854-166del	XP_011510058.1:n.854-168_854-166del
XR_923004.1:n.1939-168_1939-166del
XR_923007.1:n.1649-168_1649-166del
XR_923011.1:n.1750-168_1750-166del
NM_001352824.1:c.746-168_746-166del	NP_001339753.1:n.746-168_746-166del
XM_011511734.2:c.1427-168_1427-166del	XP_011510036.1:n.1427-168_1427-166del
XM_011511735.2:c.1385-168_1385-166del	XP_011510037.1:n.1385-168_1385-166del
XM_011511736.2:c.1349-168_1349-166del	XP_011510038.1:n.1349-168_1349-166del
XM_011511744.2:c.*39-168_*39-166del	XP_011510046.1:n.*39-168_*39-166del
XM_011511750.3:c.1219-168_1219-166del	XP_011510052.1:n.1219-168_1219-166del
XM_011511756.2:c.854-168_854-166del	XP_011510058.1:n.854-168_854-166del
XM_024453102.1:c.1199-168_1199-166del	XP_024308870.1:n.1199-168_1199-166del
XR_001738918.2:n.1681-168_1681-166del
XR_001738919.2:n.1615-168_1615-166del
XR_923004.3:n.1938-168_1938-166del
XR_923007.3:n.1648-168_1648-166del
XR_923011.3:n.1749-168_1749-166del
NM_152783.5:c.1307-168_1307-166del MANE Select	NP_689996.4:n.1307-168_1307-166del
NM_001287249.2:c.905-168_905-166del	NP_001274178.1:n.905-168_905-166del
NM_001352824.2:c.746-168_746-166del	NP_001339753.1:n.746-168_746-166del
NR_109778.2:n.1178-168_1178-166del