Canonical Allele Identifier: CA1339784340

Gene: D2HGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767795_241767796delinsGA , CM000664.2:g.241767795_241767796delinsGA	GRCh38
NC_000002.11:g.242707210_242707211delinsGA , CM000664.1:g.242707210_242707211delinsGA	GRCh37
NC_000002.10:g.242355883_242355884delinsGA	NCBI36
NG_012012.1:g.38181_38182delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1392_1393delinsGA MANE Select	ENSP00000315351.4:p.Trp464=
ENST00000321264.8:c.1392_1393delinsGA	ENSP00000315351.4:p.Trp464=
ENST00000400769.6:c.*142_*143delinsGA	ENSP00000383580.2:n.*142_*143delinsGA
ENST00000403782.5:c.990_991delinsGA	ENSP00000384723.1:p.Trp330=
ENST00000436747.5:c.*2628_*2629delinsGA	ENSP00000400212.1:n.*2628_*2629delinsGA
ENST00000445308.1:c.788_789delinsGA
ENST00000468064.5:n.1282_1283delinsGA
ENST00000470343.5:n.873_874delinsGA
ENST00000473126.1:n.591_592delinsGA
ENST00000486953.5:n.1216_1217delinsGA
ENST00000610344.1:c.*236_*237delinsGA	ENSP00000481906.1:n.*236_*237delinsGA
NM_001287249.1:c.990_991delinsGA	NP_001274178.1:p.Trp330=
NM_152783.4:c.1392_1393delinsGA	NP_689996.4:p.Trp464=
NR_109778.1:n.1314_1315delinsGA
XM_011511734.1:c.1512_1513delinsGA	XP_011510036.1:p.Trp504=
XM_011511735.1:c.1470_1471delinsGA	XP_011510037.1:p.Trp490=
XM_011511736.1:c.1434_1435delinsGA	XP_011510038.1:p.Trp478=
XM_011511744.1:c.*124_*125delinsGA	XP_011510046.1:n.*124_*125delinsGA
XM_011511750.1:c.*59_*60delinsGA	XP_011510052.1:n.*59_*60delinsGA
XM_011511754.1:c.951_952delinsGA	XP_011510056.1:p.Trp317=
XM_011511755.1:c.942_943delinsGA	XP_011510057.1:p.Trp314=
XM_011511756.1:c.939_940delinsGA	XP_011510058.1:p.Trp313=
XR_923004.1:n.2024_2025delinsGA
XR_923007.1:n.1734_1735delinsGA
XR_923011.1:n.1835_1836delinsGA
NM_001352824.1:c.831_832delinsGA	NP_001339753.1:p.Trp277=
XM_011511734.2:c.1512_1513delinsGA	XP_011510036.1:p.Trp504=
XM_011511735.2:c.1470_1471delinsGA	XP_011510037.1:p.Trp490=
XM_011511736.2:c.1434_1435delinsGA	XP_011510038.1:p.Trp478=
XM_011511750.3:c.*59_*60delinsGA	XP_011510052.1:n.*59_*60delinsGA
XM_011511756.2:c.939_940delinsGA	XP_011510058.1:p.Trp313=
XM_024453102.1:c.1284_1285delinsGA	XP_024308870.1:p.Trp428=
XR_001738918.2:n.1766_1767delinsGA
XR_001738919.2:n.1700_1701delinsGA
XR_923004.3:n.2023_2024delinsGA
XR_923007.3:n.1733_1734delinsGA
XR_923011.3:n.1834_1835delinsGA
NM_152783.5:c.1392_1393delinsGA MANE Select	NP_689996.4:p.Trp464=
NM_001287249.2:c.990_991delinsGA	NP_001274178.1:p.Trp330=
NM_001352824.2:c.831_832delinsGA	NP_001339753.1:p.Trp277=
NR_109778.2:n.1263_1264delinsGA