Canonical Allele Identifier: CA1339784096

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767444_241767445delinsAG , CM000664.2:g.241767444_241767445delinsAG	GRCh38
NC_000002.11:g.242706859_242706860delinsAG , CM000664.1:g.242706859_242706860delinsAG	GRCh37
NC_000002.10:g.242355532_242355533delinsAG	NCBI36
NG_012012.1:g.37830_37831delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-266_1307-265delinsAG MANE Select	ENSP00000315351.4:n.1307-266_1307-265delinsAG
ENST00000321264.8:c.1307-266_1307-265delinsAG	ENSP00000315351.4:n.1307-266_1307-265delinsAG
ENST00000400769.6:c.*57-266_*57-265delinsAG	ENSP00000383580.2:n.*57-266_*57-265delinsAG
ENST00000403782.5:c.905-266_905-265delinsAG	ENSP00000384723.1:n.905-266_905-265delinsAG
ENST00000436747.5:c.*2543-266_*2543-265delinsAG	ENSP00000400212.1:n.*2543-266_*2543-265delinsAG
ENST00000445308.1:c.703-266_703-265delinsAG
ENST00000468064.5:n.1197-266_1197-265delinsAG
ENST00000470343.5:n.788-266_788-265delinsAG
ENST00000473126.1:n.506-266_506-265delinsAG
ENST00000486953.5:n.1134-269_1134-268delinsAG
ENST00000610344.1:c.*151-266_*151-265delinsAG	ENSP00000481906.1:n.*151-266_*151-265delinsAG
NM_001287249.1:c.905-266_905-265delinsAG	NP_001274178.1:n.905-266_905-265delinsAG
NM_152783.4:c.1307-266_1307-265delinsAG	NP_689996.4:n.1307-266_1307-265delinsAG
NR_109778.1:n.1229-266_1229-265delinsAG
XM_011511734.1:c.1427-266_1427-265delinsAG	XP_011510036.1:n.1427-266_1427-265delinsAG
XM_011511735.1:c.1385-266_1385-265delinsAG	XP_011510037.1:n.1385-266_1385-265delinsAG
XM_011511736.1:c.1349-266_1349-265delinsAG	XP_011510038.1:n.1349-266_1349-265delinsAG
XM_011511744.1:c.*39-266_*39-265delinsAG	XP_011510046.1:n.*39-266_*39-265delinsAG
XM_011511750.1:c.1219-266_1219-265delinsAG	XP_011510052.1:n.1219-266_1219-265delinsAG
XM_011511754.1:c.866-266_866-265delinsAG	XP_011510056.1:n.866-266_866-265delinsAG
XM_011511755.1:c.857-266_857-265delinsAG	XP_011510057.1:n.857-266_857-265delinsAG
XM_011511756.1:c.854-266_854-265delinsAG	XP_011510058.1:n.854-266_854-265delinsAG
XR_923004.1:n.1939-266_1939-265delinsAG
XR_923007.1:n.1649-266_1649-265delinsAG
XR_923011.1:n.1750-266_1750-265delinsAG
NM_001352824.1:c.746-266_746-265delinsAG	NP_001339753.1:n.746-266_746-265delinsAG
XM_011511734.2:c.1427-266_1427-265delinsAG	XP_011510036.1:n.1427-266_1427-265delinsAG
XM_011511735.2:c.1385-266_1385-265delinsAG	XP_011510037.1:n.1385-266_1385-265delinsAG
XM_011511736.2:c.1349-266_1349-265delinsAG	XP_011510038.1:n.1349-266_1349-265delinsAG
XM_011511744.2:c.*39-266_*39-265delinsAG	XP_011510046.1:n.*39-266_*39-265delinsAG
XM_011511750.3:c.1219-266_1219-265delinsAG	XP_011510052.1:n.1219-266_1219-265delinsAG
XM_011511756.2:c.854-266_854-265delinsAG	XP_011510058.1:n.854-266_854-265delinsAG
XM_024453102.1:c.1199-266_1199-265delinsAG	XP_024308870.1:n.1199-266_1199-265delinsAG
XR_001738918.2:n.1681-266_1681-265delinsAG
XR_001738919.2:n.1615-266_1615-265delinsAG
XR_923004.3:n.1938-266_1938-265delinsAG
XR_923007.3:n.1648-266_1648-265delinsAG
XR_923011.3:n.1749-266_1749-265delinsAG
NM_152783.5:c.1307-266_1307-265delinsAG MANE Select	NP_689996.4:n.1307-266_1307-265delinsAG
NM_001287249.2:c.905-266_905-265delinsAG	NP_001274178.1:n.905-266_905-265delinsAG
NM_001352824.2:c.746-266_746-265delinsAG	NP_001339753.1:n.746-266_746-265delinsAG
NR_109778.2:n.1178-266_1178-265delinsAG