Canonical Allele Identifier: CA2655228924

Gene: PRODH DGCR6

Linked Data

• gnomAD v4: 22-18913187-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913188del , CM000684.2:g.18913188del	GRCh38
NC_000022.10:g.18900701del , CM000684.1:g.18900701del	GRCh37
NC_000022.9:g.17280701del	NCBI36
NG_008226.2:g.28366del
NG_009052.1:g.11966del
NG_008226.3:g.28366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1790del (PRODH) MANE Select	ENSP00000349577.6:p.His597LeufsTer?
ENST00000638240.1:c.513+2160del	ENSP00000492446.1:n.513+2160del
ENST00000313755.9:n.2555del (PRODH)
ENST00000334029.6:c.1466del (PRODH)	ENSP00000334726.2:p.His489LeufsTer?
ENST00000357068.10:c.1790del (PRODH)	ENSP00000349577.6:p.His597LeufsTer?
ENST00000420436.5:c.1466del (PRODH)	ENSP00000410805.1:p.His489LeufsTer?
ENST00000429300.5:n.2161del (PRODH)
ENST00000482858.5:n.4270del (PRODH)
ENST00000483718.5:c.*1830del (DGCR6)	ENSP00000467483.1:n.*1830del
ENST00000491604.5:n.2699del (PRODH)
ENST00000610940.4:c.1790del (PRODH)	ENSP00000480347.1:p.His597LeufsTer?
NM_001195226.1:c.1466del (PRODH)	NP_001182155.1:p.His489LeufsTer?
NM_016335.4:c.1790del (PRODH)	NP_057419.4:p.His597LeufsTer?
XM_011530278.1:c.1217del (PRODH)	XP_011528580.1:p.His406LeufsTer?
XM_011530279.1:c.1010del (PRODH)	XP_011528581.1:p.His337LeufsTer?
XR_937876.1:n.1857del (PRODH)
NM_005675.5:c.*1499del (DGCR6)	NP_005666.2:n.*1499del
NM_001195226.2:c.1466del (PRODH)	NP_001182155.2:p.His489LeufsTer?
NM_016335.5:c.1790del (PRODH)	NP_057419.5:p.His597LeufsTer?
NM_016335.6:c.1790del (PRODH) MANE Select	NP_057419.5:p.His597LeufsTer?