Canonical Allele Identifier: CA1339784303
Gene: D2HGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767729_241767730delinsCA , CM000664.2:g.241767729_241767730delinsCA GRCh38
NC_000002.11:g.242707144_242707145delinsCA , CM000664.1:g.242707144_242707145delinsCA GRCh37
NC_000002.10:g.242355817_242355818delinsCA NCBI36
NG_012012.1:g.38115_38116delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1326_1327delinsCA MANE Select ENSP00000315351.4:p.Leu442=
ENST00000321264.8:c.1326_1327delinsCA ENSP00000315351.4:p.Leu442=
ENST00000400769.6:c.*76_*77delinsCA ENSP00000383580.2:n.*76_*77delinsCA
ENST00000403782.5:c.924_925delinsCA ENSP00000384723.1:p.Leu308=
ENST00000436747.5:c.*2562_*2563delinsCA ENSP00000400212.1:n.*2562_*2563delinsCA
ENST00000445308.1:c.722_723delinsCA
ENST00000468064.5:n.1216_1217delinsCA
ENST00000470343.5:n.807_808delinsCA
ENST00000473126.1:n.525_526delinsCA
ENST00000486953.5:n.1150_1151delinsCA
ENST00000610344.1:c.*170_*171delinsCA ENSP00000481906.1:n.*170_*171delinsCA
NM_001287249.1:c.924_925delinsCA NP_001274178.1:p.Leu308=
NM_152783.4:c.1326_1327delinsCA NP_689996.4:p.Leu442=
NR_109778.1:n.1248_1249delinsCA
XM_011511734.1:c.1446_1447delinsCA XP_011510036.1:p.Leu482=
XM_011511735.1:c.1404_1405delinsCA XP_011510037.1:p.Leu468=
XM_011511736.1:c.1368_1369delinsCA XP_011510038.1:p.Leu456=
XM_011511744.1:c.*58_*59delinsCA XP_011510046.1:n.*58_*59delinsCA
XM_011511750.1:c.1238_1239delinsCA XP_011510052.1:p.Ser413=
XM_011511754.1:c.885_886delinsCA XP_011510056.1:p.Leu295=
XM_011511755.1:c.876_877delinsCA XP_011510057.1:p.Leu292=
XM_011511756.1:c.873_874delinsCA XP_011510058.1:p.Leu291=
XR_923004.1:n.1958_1959delinsCA
XR_923007.1:n.1668_1669delinsCA
XR_923011.1:n.1769_1770delinsCA
NM_001352824.1:c.765_766delinsCA NP_001339753.1:p.Leu255=
XM_011511734.2:c.1446_1447delinsCA XP_011510036.1:p.Leu482=
XM_011511735.2:c.1404_1405delinsCA XP_011510037.1:p.Leu468=
XM_011511736.2:c.1368_1369delinsCA XP_011510038.1:p.Leu456=
XM_011511744.2:c.*58_*59delinsCA XP_011510046.1:n.*58_*59delinsCA
XM_011511750.3:c.1238_1239delinsCA XP_011510052.1:p.Ser413=
XM_011511756.2:c.873_874delinsCA XP_011510058.1:p.Leu291=
XM_024453102.1:c.1218_1219delinsCA XP_024308870.1:p.Leu406=
XR_001738918.2:n.1700_1701delinsCA
XR_001738919.2:n.1634_1635delinsCA
XR_923004.3:n.1957_1958delinsCA
XR_923007.3:n.1667_1668delinsCA
XR_923011.3:n.1768_1769delinsCA
NM_152783.5:c.1326_1327delinsCA MANE Select NP_689996.4:p.Leu442=
NM_001287249.2:c.924_925delinsCA NP_001274178.1:p.Leu308=
NM_001352824.2:c.765_766delinsCA NP_001339753.1:p.Leu255=
NR_109778.2:n.1197_1198delinsCA