Canonical Allele Identifier: CA1339784212

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767599_241767600delinsCG , CM000664.2:g.241767599_241767600delinsCG	GRCh38
NC_000002.11:g.242707014_242707015delinsCG , CM000664.1:g.242707014_242707015delinsCG	GRCh37
NC_000002.10:g.242355687_242355688delinsCG	NCBI36
NG_012012.1:g.37985_37986delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-111_1307-110delinsCG MANE Select	ENSP00000315351.4:n.1307-111_1307-110delinsCG
ENST00000321264.8:c.1307-111_1307-110delinsCG	ENSP00000315351.4:n.1307-111_1307-110delinsCG
ENST00000400769.6:c.*57-111_*57-110delinsCG	ENSP00000383580.2:n.*57-111_*57-110delinsCG
ENST00000403782.5:c.905-111_905-110delinsCG	ENSP00000384723.1:n.905-111_905-110delinsCG
ENST00000436747.5:c.*2543-111_*2543-110delinsCG	ENSP00000400212.1:n.*2543-111_*2543-110delinsCG
ENST00000445308.1:c.703-111_703-110delinsCG
ENST00000468064.5:n.1197-111_1197-110delinsCG
ENST00000470343.5:n.788-111_788-110delinsCG
ENST00000473126.1:n.506-111_506-110delinsCG
ENST00000486953.5:n.1134-114_1134-113delinsCG
ENST00000610344.1:c.*151-111_*151-110delinsCG	ENSP00000481906.1:n.*151-111_*151-110delinsCG
NM_001287249.1:c.905-111_905-110delinsCG	NP_001274178.1:n.905-111_905-110delinsCG
NM_152783.4:c.1307-111_1307-110delinsCG	NP_689996.4:n.1307-111_1307-110delinsCG
NR_109778.1:n.1229-111_1229-110delinsCG
XM_011511734.1:c.1427-111_1427-110delinsCG	XP_011510036.1:n.1427-111_1427-110delinsCG
XM_011511735.1:c.1385-111_1385-110delinsCG	XP_011510037.1:n.1385-111_1385-110delinsCG
XM_011511736.1:c.1349-111_1349-110delinsCG	XP_011510038.1:n.1349-111_1349-110delinsCG
XM_011511744.1:c.*39-111_*39-110delinsCG	XP_011510046.1:n.*39-111_*39-110delinsCG
XM_011511750.1:c.1219-111_1219-110delinsCG	XP_011510052.1:n.1219-111_1219-110delinsCG
XM_011511754.1:c.866-111_866-110delinsCG	XP_011510056.1:n.866-111_866-110delinsCG
XM_011511755.1:c.857-111_857-110delinsCG	XP_011510057.1:n.857-111_857-110delinsCG
XM_011511756.1:c.854-111_854-110delinsCG	XP_011510058.1:n.854-111_854-110delinsCG
XR_923004.1:n.1939-111_1939-110delinsCG
XR_923007.1:n.1649-111_1649-110delinsCG
XR_923011.1:n.1750-111_1750-110delinsCG
NM_001352824.1:c.746-111_746-110delinsCG	NP_001339753.1:n.746-111_746-110delinsCG
XM_011511734.2:c.1427-111_1427-110delinsCG	XP_011510036.1:n.1427-111_1427-110delinsCG
XM_011511735.2:c.1385-111_1385-110delinsCG	XP_011510037.1:n.1385-111_1385-110delinsCG
XM_011511736.2:c.1349-111_1349-110delinsCG	XP_011510038.1:n.1349-111_1349-110delinsCG
XM_011511744.2:c.*39-111_*39-110delinsCG	XP_011510046.1:n.*39-111_*39-110delinsCG
XM_011511750.3:c.1219-111_1219-110delinsCG	XP_011510052.1:n.1219-111_1219-110delinsCG
XM_011511756.2:c.854-111_854-110delinsCG	XP_011510058.1:n.854-111_854-110delinsCG
XM_024453102.1:c.1199-111_1199-110delinsCG	XP_024308870.1:n.1199-111_1199-110delinsCG
XR_001738918.2:n.1681-111_1681-110delinsCG
XR_001738919.2:n.1615-111_1615-110delinsCG
XR_923004.3:n.1938-111_1938-110delinsCG
XR_923007.3:n.1648-111_1648-110delinsCG
XR_923011.3:n.1749-111_1749-110delinsCG
NM_152783.5:c.1307-111_1307-110delinsCG MANE Select	NP_689996.4:n.1307-111_1307-110delinsCG
NM_001287249.2:c.905-111_905-110delinsCG	NP_001274178.1:n.905-111_905-110delinsCG
NM_001352824.2:c.746-111_746-110delinsCG	NP_001339753.1:n.746-111_746-110delinsCG
NR_109778.2:n.1178-111_1178-110delinsCG