Canonical Allele Identifier: CA2567846274

Gene: DGKH

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42160775_42160776insCATAAATAATCAGCTGT , CM000675.2:g.42160775_42160776insCATAAATAATCAGCTGT	GRCh38
NC_000013.10:g.42734911_42734912insCATAAATAATCAGCTGT , CM000675.1:g.42734911_42734912insCATAAATAATCAGCTGT	GRCh37
NC_000013.9:g.41632911_41632912insCATAAATAATCAGCTGT	NCBI36
NG_029191.2:g.125740_125741insCATAAATAATCAGCTGT
NG_029191.3:g.125740_125741insCATAAATAATCAGCTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000337343.9:c.855+639_855+640insCATAAATAATCAGCTGT MANE Select	ENSP00000337572.4:n.855+639_855+640insCAT...
ENST00000261491.9:c.855+639_855+640insCATAAATAATCAGCTGT	ENSP00000261491.4:n.855+639_855+640insCAT...
ENST00000337343.8:c.855+639_855+640insCATAAATAATCAGCTGT	ENSP00000337572.4:n.855+639_855+640insCAT...
ENST00000379274.6:c.855+639_855+640insCATAAATAATCAGCTGT	ENSP00000368576.3:n.855+639_855+640insCAT...
ENST00000498255.6:n.1086+639_1086+640insCATAAATAATCAGCTGT
ENST00000536612.3:c.447+639_447+640insCATAAATAATCAGCTGT	ENSP00000445114.2:n.447+639_447+640insCAT...
ENST00000626247.2:c.215-4556_215-4555insCATAAATAATCAGCTGT	ENSP00000486329.1:n.215-4556_215-4555insC...
ENST00000627777.2:c.447+639_447+640insCATAAATAATCAGCTGT	ENSP00000486838.1:n.447+639_447+640insCAT...
ENST00000628433.2:c.447+639_447+640insCATAAATAATCAGCTGT	ENSP00000485809.1:n.447+639_447+640insCAT...
NM_001204504.2:c.855+639_855+640insCATAAATAATCAGCTGT	NP_001191433.1:n.855+639_855+640insCATAAA...
NM_001204505.2:c.447+639_447+640insCATAAATAATCAGCTGT	NP_001191434.1:n.447+639_447+640insCATAAA...
NM_001204506.2:c.447+639_447+640insCATAAATAATCAGCTGT	NP_001191435.1:n.447+639_447+640insCATAAA...
NM_001297429.1:c.121-4556_121-4555insCATAAATAATCAGCTGT	NP_001284358.1:n.121-4556_121-4555insCATA...
NM_152910.5:c.855+639_855+640insCATAAATAATCAGCTGT	NP_690874.2:n.855+639_855+640insCATAAATAA...
NM_178009.4:c.855+639_855+640insCATAAATAATCAGCTGT	NP_821077.1:n.855+639_855+640insCATAAATAA...
NR_123714.1:n.579+639_579+640insCATAAATAATCAGCTGT
NR_123715.1:n.1192+639_1192+640insCATAAATAATCAGCTGT
NM_001204505.3:c.447+639_447+640insCATAAATAATCAGCTGT	NP_001191434.1:n.447+639_447+640insCATAAA...
NM_001204506.3:c.447+639_447+640insCATAAATAATCAGCTGT	NP_001191435.1:n.447+639_447+640insCATAAA...
NM_001297429.2:c.121-4556_121-4555insCATAAATAATCAGCTGT	NP_001284358.1:n.121-4556_121-4555insCATA...
NM_152910.6:c.855+639_855+640insCATAAATAATCAGCTGT	NP_690874.2:n.855+639_855+640insCATAAATAA...
NM_178009.5:c.855+639_855+640insCATAAATAATCAGCTGT MANE Select	NP_821077.1:n.855+639_855+640insCATAAATAA...
NR_123714.2:n.563+639_563+640insCATAAATAATCAGCTGT
NR_123715.2:n.1176+639_1176+640insCATAAATAATCAGCTGT
NM_001204504.3:c.855+639_855+640insCATAAATAATCAGCTGT	NP_001191433.1:n.855+639_855+640insCATAAA...